About: Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

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About: Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J Goto Sponge NotDistinct Permalink

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description	artículu científicu espublizáu en 2007 (ast) vědecký článek publikovaný v roce 2007 (cs) 2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована в липні 2007 (uk) 2007 թվականի հուլիսին հրատարակված գիտական հոդված (hy) article publié dans la revue scientifique Nature (fr) im Juli 2007 veröffentlichter wissenschaftlicher Artikel (de) scientific journal article (en) wetenschappelijk artikel (gepubliceerd op 2007/07/05) (nl) vedecký článok (publikovaný 2007/07/05) (sk) مقالة علمية (نشرت في 5-7-2007) (ar)
publication date	wds:Q28511673-6D135034-B95F-410C-803B-932D4AE2AED3
publication date	2007-07-05 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28511673-B4E649BA-A73A-472F-8003-0FB399FBB791
language of work or name	English
cites work	wds:Q28511673-01D689AC-B05F-4586-B6A3-AB5AF4B44531 wds:Q28511673-0C416DA1-8B14-405C-9DB2-0702A07B1FFB wds:Q28511673-115B89AF-5DA6-4DFF-971D-F10225FE3C60 wds:Q28511673-216044D9-1C27-4314-A2DB-ED9C0BCD1A5B wds:Q28511673-250E80DD-A38F-43F4-95F2-AC2939C4B052 wds:Q28511673-2AF39141-52D9-4655-B1D0-FD3B9C9AC83C wds:Q28511673-2B8D4A95-154C-408F-8C58-9C3B8B981DFB wds:Q28511673-32326AFB-F626-4EA2-864A-9A198C357B98 wds:Q28511673-39B5A0F9-E651-4F8D-BFF7-7800A33BAF01 wds:Q28511673-4112F63C-9868-4671-8C3B-798EA3DA1EB3 wds:Q28511673-4788307D-965D-439B-8ACF-387F29E051F1 wds:Q28511673-5751D93C-14AC-4898-85C5-CB3F10E92C25 wds:Q28511673-5C2D5873-0F2C-4A0B-8EAF-5916B7C42703 wds:Q28511673-691C132F-A41E-47C8-B7DF-49184C581A87 wds:Q28511673-70961C2C-FC4A-4ABA-A999-D68B599CC1F3 wds:Q28511673-8DC0C0C6-9686-46BF-92C4-9CD674159735 wds:Q28511673-8E5F6A32-A78E-444A-AA56-DE89E01DC58F wds:Q28511673-9375A636-55B9-4F61-9C53-EC9426457329 wds:Q28511673-97610210-83D7-4351-A4AD-8EC2B2D208CC wds:Q28511673-B9D0E143-2ABD-452C-9E70-72DCDF66AC38 wds:Q28511673-BA7549D7-4D7D-42AA-9CD4-74F0893BC458 wds:Q28511673-C021BED8-4462-41AA-8E19-F5EA5457F269 wds:Q28511673-C2DE7AA0-B12D-481B-AF3E-2D83D14E4787 wds:Q28511673-CCA1CCC7-A8C2-4FB1-94C6-1189459E98AD wds:Q28511673-DF4A7E09-A61E-4E6C-8095-3B9C3532D713 wds:Q28511673-E01ED986-E1BA-4CC8-AAA4-681F9E4B7244 wds:Q28511673-EFF67F2A-F1FE-4BBD-A80D-C3502E38BBFB wds:Q28511673-F4B78531-311C-4960-AE28-19CEC1E7C2BD
cites work	Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease Osmotic stress-induced increase of phosphatidylinositol 3,5-bisphosphate requires Vac14p, an activator of the lipid kinase Fab1p The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis Phosphoinositides in cell regulation and membrane dynamics The melanosome: membrane dynamics in black and white Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4 Retroviral elements and their hosts: insertional mutagenesis in the mouse germ line Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Plasticity-induced growth of dendritic spines by exocytic trafficking from recycling endosomes Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Phosphoinositide 5-phosphatase Fig 4p is required for both acute rise and subsequent fall in stress-induced phosphatidylinositol 3,5-bisphosphate levels Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member. The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover Vacuole Size Control: Regulation of PtdIns(3,5)P2Levels by the Vacuole-associated Vac14-Fig4 Complex, a PtdIns(3,5)P2-specific Phosphatase Sac phosphatase domain proteins. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. An animal model for Charcot-Marie-Tooth disease type 4B1. Phosphatidylinositol 3,5-bisphosphate: metabolism and cellular functions De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Genetic interaction between Wnt7a and Lrp6 during patterning of dorsal and posterior structures of the mouse limb Neuropathology of Charcot-Marie-Tooth and related disorders
author name string	wds:Q28511673-0168C762-6D2D-4EAB-AA62-B001D95812DA wds:Q28511673-027641EF-D129-41FC-97FF-A623C3158D63 wds:Q28511673-15367FA2-343E-4E4D-8882-43066DED92BC wds:Q28511673-2B286E47-D9DB-440A-8F4F-60D76486132D wds:Q28511673-4E60549C-B509-4F41-BDD9-E994B9A6BCE7 wds:Q28511673-A5787C93-C1F0-4627-912F-946203D56956 wds:Q28511673-EFD3924C-BF73-4640-973E-F73F71CC57B1 wds:Q28511673-F02FD051-7C30-4AB4-9895-C9F4DCAA34C4 wds:Q28511673-F282CCCF-A6DB-4127-A098-3A68D0E40A4E
OpenCitations bibliographic resource ID	wds:Q28511673-569E29EF-1AB6-4413-93BC-63D292EDC30E
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/1226042
author name string	Jun Li Michael E. Shy Miriam H. Meisler Lois S. Weisman Natsuko Jin Xuebao Zhang Kinga Szigeti Clement Y. Chow James J. Dowling
OpenCitations bibliographic resource ID	1226042
rdfs:label	Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (en) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (nl) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (ast)
skos:prefLabel	Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (en) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (nl) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (ast)
name	Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (en)

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