يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"GBA, Glucocerebrosidase gene"', وقت الاستعلام: 0.71s تنقيح النتائج
  1. 1
    Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation

    المؤلفون: Matthew E. Gegg, Shi Yu Yang, Anthony H.V. Schapira, David Chau

    المصدر: Neurobiology of Disease
    Neurobiology of Disease, Vol 134, Iss, Pp-(2020)

    مصطلحات موضوعية: 0301 basic medicine, Glucocerebrosidase, CTSD, cathepsin D, Parkinson's disease, GCase, Glucocerebrosidase enzyme, Mutant, Cathepsin D, NCSC, Neural crest stem cell, Gene mutation, PD, Parkinson's disease, ABX, ambroxol, Article, lcsh:RC321-571, CTSB, Cathepsin B, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Cerezyme, LAMP1, Lysosomal-associated membrane protein 1, Humans, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Cells, Cultured, chemistry.chemical_classification, biology, Dopaminergic Neurons, Dopaminergic, Parkinson Disease, Cell biology, nervous system diseases, Monomeric α-Synuclein, Ambroxol, GBA, Glucocerebrosidase gene, 030104 developmental biology, Enzyme, Neurology, chemistry, nervous system, Neural Crest, Chaperone (protein), Mutation, alpha-Synuclein, biology.protein, Glucosylceramidase, Stem cell, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad60dd74c70214a3dbd2729a2d8fc5a

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  2. 2
    دورية أكاديمية
    Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.

    المؤلفون: Hoitsema K; Department of Biology, Centre for Biomedical Research, University of Victoria, British Columbia, Canada., Amato D; Mark Freedman and Judy Jacobs Program for Gaucher Disease, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Khan A; Department of Medical Genetics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada., Sirrs S; Department of Medicine, Division of Endocrinology, University of British Columbia, Canada., Choy FY; Department of Biology, Centre for Biomedical Research, University of Victoria, British Columbia, Canada.

    المصدر: Meta gene [Meta Gene] 2016 Mar 23; Vol. 9, pp. 47-51. Date of Electronic Publication: 2016 Mar 23 (Print Publication: 2016).

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101627670 Publication Model: eCollection Cited Medium: Print ISSN: 2214-5400 (Print) Linking ISSN: 22145400 NLM ISO Abbreviation: Meta Gene Subsets: PubMed not MEDLINE

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