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[PMID]:28027395
[Au] Autor:Whyte LS; Lau AA; Hemsley KM; Hopwood JJ; Sargeant TJ
[Ad] Endereço:Lysosomal Diseases Research Unit, Nutrition and Metabolism Theme, South Australian Health and Medical Research Institute, Adelaide, Australia.
[Ti] Título:Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?
[So] Source:J Neurochem;140(5):703-717, 2017 Mar.
[Is] ISSN:1471-4159
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Alzheimer's disease (AD) is the most common cause of dementia, and its prevalence will increase significantly in the coming decades. Although important progress has been made, fundamental pathogenic mechanisms as well as most hereditary contributions to the sporadic form of the disease remain unknown. In this review, we examine the now substantial links between AD pathogenesis and lysosomal biology. The lysosome hydrolyses and processes cargo delivered by multiple pathways, including endocytosis and autophagy. The endo-lysosomal and autophagic networks are central to clearance of cellular macromolecules, which is important given there is a deficit in clearance of amyloid-ß in AD. Numerous studies show prominent lysosomal dysfunction in AD, including perturbed trafficking of lysosomal enzymes and accumulation of the same substrates that accumulate in lysosomal storage disorders. Examination of the brain in lysosomal storage disorders shows the accumulation of amyloid precursor protein metabolites, which further links lysosomal dysfunction with AD. This and other evidence leads us to hypothesise that genetic variation in lysosomal genes modifies the disease course of sporadic AD.
[Mh] Termos MeSH primário: Doença de Alzheimer/patologia
Doença de Alzheimer/fisiopatologia
Autofagia
Lisossomos/patologia
[Mh] Termos MeSH secundário: Doença de Alzheimer/metabolismo
Animais
Seres Humanos
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/patologia
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/fisiopatologia
Lisossomos/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170623
[Lr] Data última revisão:
170623
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161228
[St] Status:MEDLINE
[do] DOI:10.1111/jnc.13935


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[PMID]:26715604
[Au] Autor:Ebrahimi-Fakhari D; Saffari A; Wahlster L; Lu J; Byrne S; Hoffmann GF; Jungbluth H; Sahin M
[Ad] Endereço:1 The F.M. Kirby Neurobiology Centre, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA 2 Division of Paediatric Neurology and Inherited Metabolic Diseases, Department of Paediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Hei
[Ti] Título:Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
[So] Source:Brain;139(Pt 2):317-37, 2016 Feb.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabolic specialist at the forefront of recognizing and treating these rare conditions. On a molecular level, mutations in key autophagy genes map to different stages of this highly conserved pathway and thus lead to impairment in isolation membrane (or phagophore) and autophagosome formation, maturation, or autophagosome-lysosome fusion. Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-propeller protein-associated neurodegeneration due to mutations in WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYVE26 and TECPR2 mutations, respectively. We also highlight associations between defective autophagy and other inborn errors of metabolism such as lysosomal storage diseases and neurodevelopmental diseases associated with the mTOR pathway, which may be included in the wider spectrum of autophagy-related diseases from a pathobiological point of view. By exploring these emerging themes in disease pathogenesis and underlying pathophysiological mechanisms, we discuss how congenital disorders of autophagy inform our understanding of the importance of this fascinating cellular pathway for central nervous system biology and disease. Finally, we review the concept of modulating autophagy as a therapeutic target and argue that congenital disorders of autophagy provide a unique genetic perspective on the possibilities and challenges of pathway-specific drug development.
[Mh] Termos MeSH primário: Autofagia/fisiologia
Encefalopatias Metabólicas Congênitas/genética
Encefalopatias Metabólicas Congênitas/metabolismo
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/metabolismo
[Mh] Termos MeSH secundário: Agenesia do Corpo Caloso/diagnóstico
Agenesia do Corpo Caloso/genética
Agenesia do Corpo Caloso/metabolismo
Encefalopatias Metabólicas Congênitas/diagnóstico
Catarata/diagnóstico
Catarata/genética
Catarata/metabolismo
Seres Humanos
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/diagnóstico
Lisossomos/genética
Lisossomos/metabolismo
Paraplegia Espástica Hereditária/diagnóstico
Paraplegia Espástica Hereditária/genética
Paraplegia Espástica Hereditária/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1606
[Cu] Atualização por classe:170321
[Lr] Data última revisão:
170321
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:151231
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awv371


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[PMID]:26387958
[Au] Autor:Wong CO; Palmieri M; Li J; Akhmedov D; Chao Y; Broadhead GT; Zhu MX; Berdeaux R; Collins CA; Sardiello M; Venkatachalam K
[Ad] Endereço:Department of Integrative Biology and Pharmacology, University of Texas School of Medicine, Houston, TX 77030, USA.
[Ti] Título:Diminished MTORC1-Dependent JNK Activation Underlies the Neurodevelopmental Defects Associated with Lysosomal Dysfunction.
[So] Source:Cell Rep;12(12):2009-20, 2015 Sep 29.
[Is] ISSN:2211-1247
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Here, we evaluate the mechanisms underlying the neurodevelopmental deficits in Drosophila and mouse models of lysosomal storage diseases (LSDs). We find that lysosomes promote the growth of neuromuscular junctions (NMJs) via Rag GTPases and mechanistic target of rapamycin complex 1 (MTORC1). However, rather than employing S6K/4E-BP1, MTORC1 stimulates NMJ growth via JNK, a determinant of axonal growth in Drosophila and mammals. This role of lysosomal function in regulating JNK phosphorylation is conserved in mammals. Despite requiring the amino-acid-responsive kinase MTORC1, NMJ development is insensitive to dietary protein. We attribute this paradox to anaplastic lymphoma kinase (ALK), which restricts neuronal amino acid uptake, and the administration of an ALK inhibitor couples NMJ development to dietary protein. Our findings provide an explanation for the neurodevelopmental deficits in LSDs and suggest an actionable target for treatment.
[Mh] Termos MeSH primário: Drosophila melanogaster/genética
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética
Lisossomos/metabolismo
MAP Quinase Quinase 4/genética
Complexos Multiproteicos/genética
Junção Neuromuscular/genética
Serina-Treonina Quinases TOR/genética
[Mh] Termos MeSH secundário: Animais
Proteínas na Dieta/administração & dosagem
Modelos Animais de Doenças
Proteínas de Drosophila/genética
Proteínas de Drosophila/metabolismo
Drosophila melanogaster/efeitos dos fármacos
Drosophila melanogaster/metabolismo
Regulação da Expressão Gênica
Seres Humanos
Peptídeos e Proteínas de Sinalização Intercelular/genética
Peptídeos e Proteínas de Sinalização Intercelular/metabolismo
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/metabolismo
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/patologia
Lisossomos/efeitos dos fármacos
Lisossomos/patologia
MAP Quinase Quinase 4/metabolismo
MAP Quinase Quinase Quinases/genética
MAP Quinase Quinase Quinases/metabolismo
Alvo Mecanístico do Complexo 1 de Rapamicina
Camundongos
Complexos Multiproteicos/metabolismo
Junção Neuromuscular/efeitos dos fármacos
Junção Neuromuscular/metabolismo
Junção Neuromuscular/patologia
Fosforilação
Inibidores de Proteínas Quinases/farmacologia
Receptores Proteína Tirosina Quinases/antagonistas & inibidores
Receptores Proteína Tirosina Quinases/genética
Receptores Proteína Tirosina Quinases/metabolismo
Transdução de Sinais
Sinapses/efeitos dos fármacos
Sinapses/metabolismo
Sinapses/patologia
Serina-Treonina Quinases TOR/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Dietary Proteins); 0 (Dlk1 protein, mouse); 0 (Drosophila Proteins); 0 (Intercellular Signaling Peptides and Proteins); 0 (Multiprotein Complexes); 0 (Protein Kinase Inhibitors); EC 2.7.1.1 (TOR Serine-Threonine Kinases); EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases); EC 2.7.10.1 (anaplastic lymphoma kinase); EC 2.7.11.1 (Mechanistic Target of Rapamycin Complex 1); EC 2.7.11.25 (MAP Kinase Kinase Kinases); EC 2.7.11.25 (Wallenda protein, Drosophila); EC 2.7.12.2 (MAP Kinase Kinase 4)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150922
[St] Status:MEDLINE


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[PMID]:25987170
[Au] Autor:Scarpa M; Bellettato CM; Lampe C; Begley DJ
[Ad] Endereço:Center for Rare Diseases, Horst Schmidt Kliniken, Department of Child and Adolescent Medicine, Ludwig-Erhard-Straße 100, 65199 Wiesbaden, D, Germany; University of Padova, Department of Women and Children Health, Via Giustiniani 3, Padova, Italy; Brains for Brains Foundation, Department of Women and
[Ti] Título:Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system.
[So] Source:Best Pract Res Clin Endocrinol Metab;29(2):159-71, 2015 Mar.
[Is] ISSN:1878-1594
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Pharmacological research has always focused on developing new therapeutic strategies capable of modifying a disease's natural history and improving patients' quality of life. Despite recent advances within the fields of medicine and biology, some diseases still represent a major challenge for successful therapy. Neuronopathic lysosomal storage disorders, in particular, have high rates of morbidity and mortality and a devastating socio-economic effect. Many of the available therapies, such as enzyme replacement therapy, can reverse the natural history of the disease in peripheral organs but, unfortunately, are still unable to reach the central nervous system effectively because they cannot cross the blood-brain barrier that surrounds and protects the brain. Moreover, many lysosomal storage disorders are characterized by a number of blood-brain barrier dysfunctions, which may further contribute to disease neuropathology and accelerate neuronal cell death. These issues, and their context in the development of new therapeutic strategies, will be discussed in detail in this chapter.
[Mh] Termos MeSH primário: Barreira Hematoencefálica/metabolismo
Terapia de Reposição de Enzimas/métodos
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/tratamento farmacológico
[Mh] Termos MeSH secundário: Sistemas de Liberação de Medicamentos
Seres Humanos
Infusões Intraventriculares
Infusão Espinal
Injeções Intraventriculares
Injeções Espinhais
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/metabolismo
Chaperonas Moleculares/uso terapêutico
Nanopartículas/uso terapêutico
Proteínas Recombinantes
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Molecular Chaperones); 0 (Recombinant Proteins)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:150519
[Lr] Data última revisão:
150519
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150520
[St] Status:MEDLINE


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[PMID]:25912581
[Au] Autor:Huang WJ; Zhang X; Chen WW
[Ad] Endereço:Department of Neurology, Xuzhou Central Hospital, Xuzhou, Jiangsu, China. 85252095@qq.com.
[Ti] Título:Gaucher disease: a lysosomal neurodegenerative disorder.
[So] Source:Eur Rev Med Pharmacol Sci;19(7):1219-26, 2015 Apr.
[Is] ISSN:2284-0729
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Gaucher disease is a multisystemic disorder that affects men and woman in equal numbers and occurs in all ethnic groups at any age with racial variations and an estimated worldwide incidence of 1/75,000. It is caused by a genetic deficient activity of the lysosomal enzyme glucocerebrosidase due to mutations in the ß-glucocerebrosidase gene, and resulting in lack of glucocerebroside degradation. The subsequent accumulation of glucocerebroside in lysosomes of tissue macrophages primarily in the liver, bone marrow and spleen, causes damage in haematological, skeletal and nervous systems. The clinical manifestations show a high degree of variability with symptoms that varies according to organs involved. In many cases, these disorders do not correlate with mutations in the ß-glucocerebrosidase gene. Although several mutations have been identified as responsible for the deficient activity of glucocerebrosidase, mechanisms by which this enzymatic defect leads to Gaucher disease remain poorly understood. Recent reports indicate the implication of complex mechanisms, including enzyme deficiency, substrate accumulation, unfolded protein response, and macrophage activation. Further elucidating these mechanisms will advance understanding of Gaucher disease and related disorders.
[Mh] Termos MeSH primário: Doença de Gaucher/enzimologia
Doença de Gaucher/genética
Glucosilceramidase/genética
[Mh] Termos MeSH secundário: Animais
Doença de Gaucher/diagnóstico
Glucosilceramidase/deficiência
Seres Humanos
Fígado/enzimologia
Fígado/patologia
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/diagnóstico
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/enzimologia
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética
Mutação/genética
Doenças Neurodegenerativas/diagnóstico
Doenças Neurodegenerativas/enzimologia
Doenças Neurodegenerativas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:150427
[Lr] Data última revisão:
150427
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150428
[St] Status:MEDLINE


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[PMID]:25280894
[Au] Autor:Lee RW; Poretti A; Cohen JS; Levey E; Gwynn H; Johnston MV; Hoon AH; Fatemi A
[Ad] Endereço:Department of Pediatrics, Shriners Hospitals for Children - Honolulu, University of Hawaii, Honolulu, HI, USA.
[Ti] Título:A diagnostic approach for cerebral palsy in the genomic era.
[So] Source:Neuromolecular Med;16(4):821-44, 2014 Dec.
[Is] ISSN:1559-1174
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.
[Mh] Termos MeSH primário: Paralisia Cerebral/diagnóstico
Deficiências do Desenvolvimento/diagnóstico
Erros de Diagnóstico
Doenças Genéticas Inatas/diagnóstico
Técnicas de Diagnóstico Molecular
Doenças do Sistema Nervoso/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Asfixia Neonatal/diagnóstico
Asfixia Neonatal/genética
Traumatismos do Nascimento/diagnóstico
Traumatismos do Nascimento/genética
Encéfalo/embriologia
Encefalopatias Metabólicas/diagnóstico
Encefalopatias Metabólicas/genética
Movimento Celular
Paralisia Cerebral/genética
Criança
Pré-Escolar
Transtornos Cromossômicos/diagnóstico
Transtornos Cromossômicos/genética
Deficiências do Desenvolvimento/genética
Diagnóstico Diferencial
Exoma
Feminino
Doenças Genéticas Inatas/genética
Estudo de Associação Genômica Ampla
Genômica
Globo Pálido/patologia
Seres Humanos
Hipóxia Encefálica/diagnóstico
Hipóxia Encefálica/genética
Recém-Nascido
Leucoencefalopatias/diagnóstico
Leucoencefalopatias/genética
Leucoencefalopatias/metabolismo
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/diagnóstico
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética
Masculino
Doenças Mitocondriais/diagnóstico
Doenças Mitocondriais/genética
Transtornos dos Movimentos/diagnóstico
Transtornos dos Movimentos/genética
Espasticidade Muscular/diagnóstico
Espasticidade Muscular/genética
Doenças do Sistema Nervoso/genética
Neurotransmissores/metabolismo
Acidente Vascular Cerebral/congênito
Acidente Vascular Cerebral/diagnóstico
Análise Serial de Tecidos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neurotransmitter Agents)
[Em] Mês de entrada:1507
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141005
[St] Status:MEDLINE
[do] DOI:10.1007/s12017-014-8331-9


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[PMID]:25144910
[Au] Autor:Noack J; Brambilla Pisoni G; Molinari M
[Ad] Endereço:Institute for Research in Biomedicine, Protein Folding and Quality Control, Bellinzona, Switzerland.
[Ti] Título:Proteostasis: bad news and good news from the endoplasmic reticulum.
[So] Source:Swiss Med Wkly;144:w14001, 2014.
[Is] ISSN:1424-3997
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:The endoplasmic reticulum (ER) is an intracellular compartment dedicated to the synthesis and maturation of secretory and membrane proteins, totalling about 30% of the total eukaryotic cells proteome. The capacity to produce correctly folded polypeptides and to transport them to their correct intra- or extracellular destinations relies on proteostasis networks that regulate and balance the activity of protein folding, quality control, transport and degradation machineries. Nutrient and environmental changes, pathogen infection aging and, more relevant for the topics discussed in this review, mutations that impair attainment of the correct 3D structure of nascent polypeptide chains may compromise the activity of the proteostasis networks with devastating consequences on cells, organs and organisms' homeostasis. Here we present a review of mechanisms regulating folding and quality control of proteins expressed in the ER, and we describe the protein degradation and the ER stress pathways activated by the expression of misfolded proteins in the ER lumen. Finally, we highlight select examples of proteopathies (also known as conformational disorders or protein misfolding diseases) caused by protein misfolding in the ER and/or affecting cellular proteostasis and therapeutic interventions that might alleviate or cure the disease symptoms.
[Mh] Termos MeSH primário: Estresse do Retículo Endoplasmático
Retículo Endoplasmático/metabolismo
Doenças Neurodegenerativas/metabolismo
Dobramento de Proteína
Deficiências na Proteostase/metabolismo
Deficiências na Proteostase/terapia
[Mh] Termos MeSH secundário: Fator 6 Ativador da Transcrição/metabolismo
Fibrose Cística/genética
Fibrose Cística/metabolismo
Endorribonucleases/metabolismo
Terapia de Reposição de Enzimas
Fator de Iniciação 2 em Eucariotos/metabolismo
Hemofilia A/genética
Hemofilia A/metabolismo
Seres Humanos
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/metabolismo
Chaperonas Moleculares/uso terapêutico
Doenças Neurodegenerativas/genética
Proteínas Serina-Treonina Quinases/metabolismo
Deficiências na Proteostase/genética
Transdução de Sinais
Resposta a Proteínas não Dobradas/efeitos dos fármacos
eIF-2 Quinase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Activating Transcription Factor 6); 0 (Eukaryotic Initiation Factor-2); 0 (Molecular Chaperones); EC 2.7.11.1 (ERN1 protein, human); EC 2.7.11.1 (PERK kinase); EC 2.7.11.1 (Protein-Serine-Threonine Kinases); EC 2.7.11.1 (eIF-2 Kinase); EC 3.1.- (Endoribonucleases)
[Em] Mês de entrada:1505
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140822
[St] Status:MEDLINE


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[PMID]:24307179
[Au] Autor:Jakóbkiewicz-Banecka J; Gabig-Ciminska M; Banecka-Majkutewicz Z; Banecki B; Wegrzyn A; Wegrzyn G
[Ad] Endereço:Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308, Gdansk, Poland.
[Ti] Título:Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.
[So] Source:Metab Brain Dis;29(1):1-8, 2014 Mar.
[Is] ISSN:1573-7365
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds. They are multisystemic diseases, and in most of them (>70%) severe brain dysfunctions are evident. However, expression of various phenotypes in particular diseases is extremely variable, from non-neuronopathic to severely neurodegenerative in the deficiency of the same enzyme. Although all lysosomal storage diseases are monogenic, clear genotype-phenotype correlations occur only in some cases. In this article, we present an overview on various factors and processes, both general and specific for certain disorders, that can significantly modulate expression of phenotypes in these diseases. On the basis of recent reports describing studies on both animal models and clinical data, we propose a hypothesis that efficiency of production of compounds that cannot be degraded due to enzyme deficiency might be especially important in modulation of phenotypes of patients suffering from lysosomal storage diseases.
[Mh] Termos MeSH primário: Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/patologia
[Mh] Termos MeSH secundário: Animais
Comportamento/fisiologia
Modelos Animais de Doenças
Progressão da Doença
Enzimas/genética
Enzimas/fisiologia
Interação Gene-Ambiente
Genótipo
Seres Humanos
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/metabolismo
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/psicologia
Lisossomos/enzimologia
Redes e Vias Metabólicas/genética
Redes e Vias Metabólicas/fisiologia
Camundongos
Camundongos Knockout
Modelos Biológicos
Neurônios/metabolismo
Penetrância
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Enzymes)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:140221
[Lr] Data última revisão:
140221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131206
[St] Status:MEDLINE
[do] DOI:10.1007/s11011-013-9455-6


  9 / 83 MEDLINE  
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[PMID]:23798015
[Au] Autor:Rieger D; Auerbach S; Robinson P; Gropman A
[Ad] Endereço:Department of Pediatrics, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, District of Columbia, USA.
[Ti] Título:Neuroimaging of lipid storage disorders.
[So] Source:Dev Disabil Res Rev;17(3):269-82, 2013.
[Is] ISSN:1940-5529
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly sensitive to lipid storage as the contents of the central nervous system must occupy uniform volume, and any increases in fluids or deposits will lead to pressure changes and interference with normal neurological function. In addition to primary lipid storage diseases, lysosomal storage diseases include the mucolipidoses (in which excessive amounts of lipids and carbohydrates are stored in the cells and tissues) and the mucopolysaccharidoses (in which abnormal glycosylated proteins cannot be broken down because of enzyme deficiency). Neurological dysfunction can be a manifestation of these conditions due to substrate deposition as well. This review will explore the modalities of neuroimaging that may have particular relevance to the study of the lipid storage disorder and their impact on elucidating aspects of brain function. First, the techniques will be reviewed. Next, the neuropathology of a few selected lipid storage disorders will be reviewed and the use of neuroimaging to define disease characteristics discussed in further detail. Examples of studies using these techniques will be discussed in the text.
[Mh] Termos MeSH primário: Encéfalo/metabolismo
Encéfalo/patologia
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso
Imagem por Ressonância Magnética
Neuroimagem
[Mh] Termos MeSH secundário: Encéfalo/fisiopatologia
Imagem de Tensor de Difusão
Seres Humanos
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/diagnóstico
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/metabolismo
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/patologia
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/fisiopatologia
Espectroscopia de Ressonância Magnética/métodos
Lipofuscinoses Ceroides Neuronais/diagnóstico
Transtornos Peroxissômicos/diagnóstico
Prótons
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Protons)
[Em] Mês de entrada:1403
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130626
[St] Status:MEDLINE
[do] DOI:10.1002/ddrr.1120


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[PMID]:23798012
[Au] Autor:Matern D; Oglesbee D; Tortorelli S
[Ad] Endereço:Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. matern@mayo.edu
[Ti] Título:Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
[So] Source:Dev Disabil Res Rev;17(3):247-53, 2013.
[Is] ISSN:1940-5529
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.
[Mh] Termos MeSH primário: Ataxia de Friedreich/diagnóstico
Degeneração Hepatolenticular/diagnóstico
Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/diagnóstico
Triagem Neonatal
Transtornos Peroxissômicos/diagnóstico
[Mh] Termos MeSH secundário: Diagnóstico Precoce
Seres Humanos
Recém-Nascido
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1403
[Cu] Atualização por classe:161203
[Lr] Data última revisão:
161203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130626
[St] Status:MEDLINE
[do] DOI:10.1002/ddrr.1117



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