دورية أكاديمية
أعرض في EDS

The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis.

التفاصيل البيبلوغرافية
العنوان: The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis.
المؤلفون: Borgese N; CNR Institute of Neuroscience, Via Follereau 3, Bldg U28, 20854 Vedano al Lambro, Italy., Iacomino N; CNR Institute of Neuroscience, Via Follereau 3, Bldg U28, 20854 Vedano al Lambro, Italy., Colombo SF; CNR Institute of Neuroscience, Via Follereau 3, Bldg U28, 20854 Vedano al Lambro, Italy., Navone F; CNR Institute of Neuroscience, Via Follereau 3, Bldg U28, 20854 Vedano al Lambro, Italy.
المصدر: Cells [Cells] 2021 Jul 23; Vol. 10 (8). Date of Electronic Publication: 2021 Jul 23.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI
مواضيع طبية MeSH: Mutation*, Amyotrophic Lateral Sclerosis/*genetics , Neurons/*metabolism , Vesicular Transport Proteins/*genetics, Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Disease Models, Animal ; Genetic Predisposition to Disease ; Haploinsufficiency ; Humans ; Neurons/pathology ; Phenotype ; Risk Factors ; Signal Transduction ; Vesicular Transport Proteins/metabolism
مستخلص: The VAP proteins are integral adaptor proteins of the endoplasmic reticulum (ER) membrane that recruit a myriad of interacting partners to the ER surface. Through these interactions, the VAPs mediate a large number of processes, notably the generation of membrane contact sites between the ER and essentially all other cellular membranes. In 2004, it was discovered that a mutation (p.P56S) in the VAPB paralogue causes a rare form of dominantly inherited familial amyotrophic lateral sclerosis (ALS8). The mutant protein is aggregation-prone, non-functional and unstable, and its expression from a single allele appears to be insufficient to support toxic gain-of-function effects within motor neurons. Instead, loss-of-function of the single wild-type allele is required for pathological effects, and VAPB haploinsufficiency may be the main driver of the disease. In this article, we review the studies on the effects of VAPB deficit in cellular and animal models. Several basic cell physiological processes are affected by downregulation or complete depletion of VAPB, impinging on phosphoinositide homeostasis, Ca 2+ signalling, ion transport, neurite extension, and ER stress. In the future, the distinction between the roles of the two VAP paralogues (A and B), as well as studies on motor neurons generated from induced pluripotent stem cells (iPSC) of ALS8 patients will further elucidate the pathogenic basis of p.P56S familial ALS, as well as of other more common forms of the disease.
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معلومات مُعتمدة: Fondazione Regionale per la Ricerca Biomedica [TRANS-ALS grant no. 2015-0023]. Regione Lombardia
فهرسة مساهمة: Keywords: FFAT motif; VAP proteins; endoplasmic reticulum; membrane contact sites; motor neurons; neurodegeneration; phosphoinositides
المشرفين على المادة: 0 (VAPB protein, human)
0 (Vesicular Transport Proteins)
تواريخ الأحداث: Date Created: 20210827 Date Completed: 20211115 Latest Revision: 20230920
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8392409
DOI: 10.3390/cells10081865
PMID: 34440634
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4409
DOI:10.3390/cells10081865