A conserved sorting-associated protein is mutant in chorea-acanthocytosis
about
DNA sequence and analysis of human chromosome 9Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportYeast Vps13 promotes mitochondrial function and is localized at membrane contact sites.VPS13 regulates membrane morphogenesis during sporulation in Saccharomyces cerevisiae.SPO71 encodes a developmental stage-specific partner for Vps13 in Saccharomyces cerevisiae.Soi3p/Rav1p functions at the early endosome to regulate endocytic trafficking to the vacuole and localization of trans-Golgi network transmembrane proteinsMcLeod neuroacanthocytosis: genotype and phenotypeAlterations of red cell membrane properties in neuroacanthocytosisLysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106BA gene-targeted mouse model for chorea-acanthocytosisLoss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagyLipid droplet and early autophagosomal membrane targeting of Atg2A and Atg14L in human tumor cells.Neuroacanthocytosis associated with a defect of the 4.1R membrane proteinAmino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.Vps13F links bacterial recognition and intracellular killing in DictyosteliumUMA and MABP domains throw light on receptor endocytosis and selection of endosomal cargoesNeuroacanthocytosis syndromes.Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosisBrain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.Is the transportation highway the right road for hereditary spastic paraplegia?Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.Globus pallidus interna deep brain stimulation for chorea-acanthocytosis.The Tetrahymena thermophila phagosome proteome.Vacuolar protein sorting protein 13A, TtVPS13A, localizes to the tetrahymena thermophila phagosome membrane and is required for efficient phagocytosisA conserved function in phosphatidylinositol metabolism for mammalian Vps13 family proteinsShape alterations in the striatum in chorea-acanthocytosis.Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindredDrosophila Vps13 Is Required for Protein Homeostasis in the Brain.Chorea-acanthocytosis: a case reportRecent advances in genetics of choreaChanges in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.An Ultra-rare Disease? Where Do We Go from Here?Aberrant Rab11-dependent trafficking of the neuronal glutamate transporter EAAC1 causes oxidative stress and cell death in Huntington's disease.Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.Differential diagnosis of chorea.Update on the Non-Huntington's Disease Choreas with Comments on the Current NomenclatureDiagnostic issues in childhood and adult dystonia.Clinical and molecular research of neuroacanthocytosis.Diagnosis and treatment of chorea syndromes.Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.
P2860
Q21735932-BE0A419E-111A-4FA2-A1E7-56F063B27543Q24532051-3F8E4CA3-35A2-4EEB-B5F8-01413D4C65A9Q27933840-D5386BD8-2AE1-4734-8C78-57EEFCAB2A50Q27934384-751000B1-12F0-4324-A2A4-1DD1E347E2BAQ27936893-EE6005EC-8DB7-4755-8A91-87935A4B65C4Q27939568-FDE3C34F-3127-4936-BA0B-4D84531CA73AQ28213878-206F63F2-1513-4895-A632-BA994C370BF2Q28534013-3AE513A4-16E7-456C-AE6E-96081D80B111Q28585799-B2CCD518-1D77-4001-94C4-6F942706E5EDQ28592324-2BCA358B-A5D2-42D6-9131-0DE394B3AAEEQ29147504-A7AF2620-D7EB-4595-8134-02B2808938ADQ30582048-5FB7723F-D36F-421A-9FA3-E785B44DEAA3Q33273711-5C0C352E-4FCB-43A0-A54A-A8AC5429A176Q33569154-F7D15376-710D-4364-AC0E-5D6EB31324B9Q33834297-5AEA197D-383D-4E8C-B8DC-7A95A7214695Q33896374-239BA8D3-28C2-4637-A315-13C6A3610C78Q34057716-06A4C00B-17F9-4EC2-AE4B-3D2CC787BFF5Q34166261-A249862B-9DFA-48AC-9DA0-6B5DC58CA21CQ34198997-527C2998-790C-41AE-9DAF-DB6647D265E7Q34923057-F3FAA2A2-A4F4-4535-BA69-5DEC0933AF91Q35005794-8F8BCE35-F875-4E35-895A-4A2C0F8B3B27Q35133583-0E4B996F-E96B-49DE-9B71-4A8A57772439Q35216748-619695B2-FF53-435B-985E-58B3FFE6076EQ35271290-7E436220-86C1-417D-9707-751F35DCFC7BQ35615191-A8C958F7-2BFD-409F-A9D0-F48EAC3A0DD3Q35882880-DF3D50E6-748D-4DDD-87C4-B6B50B97C4A0Q36191176-845B13F2-3DA9-42C5-B880-4F1FB5C45A82Q36255782-9A4A6AC4-807F-43B9-99BC-B89CAAC135F6Q36636039-C1022D76-3716-4219-BE6D-F5D87BE8B684Q37069506-297D9642-440C-49F7-BC31-680EA424B2A1Q37219834-57F39E6A-2D24-43B1-8DDD-F24309CA7EAFQ37293582-AE33CA0A-1CFE-46F7-9C4E-22CFB03D2C94Q37347572-4CC6C0F8-E67E-4BAE-8471-1F19C8586DF3Q37648067-CC524A5E-F23C-43A7-88C5-6AB6748C0176Q37861587-A6DA45C1-4F81-4915-A5E2-CFA7901E7D61Q38084611-DA1043C9-FD66-468F-A39E-A56D4B318BB5Q38088762-62E423C8-0362-4FB2-B0F1-47DF306BEF34Q38248002-C92132EC-336C-4138-AA3F-932F0EF9974DQ38332316-F37F3444-5BDD-4457-B5D7-955701E4ADBBQ38531994-01AA42C6-3B14-4CD7-A6B5-CB34170833F7
P2860
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@ast
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en-gb
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@nl
type
label
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@ast
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en-gb
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@nl
prefLabel
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@ast
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en-gb
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
@en
P2093
A H Németh
A Malandrini
A P Monaco
C Dobson-Stone
C Verellen
G M Fabrizi
M Manfredi
M Pericak-Vance
P2888
P304
P3181
P356
10.1038/88821
P407
P577
2001-06-01T00:00:00Z
P5875
P6179
1000275188