A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)
about
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 familyLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyThe Concise Guide to PHARMACOLOGY 2013/14: transporters.Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formationDeficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancerHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathwayGolgi post-translational modifications and associated diseases.The endoplasmic reticulum-based acetyltransferases, ATase1 and ATase2, associate with the oligosaccharyltransferase to acetylate correctly folded polypeptidesTranscriptional effects of E3 ligase atrogin-1/MAFbx on apoptosis, hypertrophy and inflammation in neonatal rat cardiomyocytes.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish.S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Cellular pathways of hereditary spastic paraplegia.Lysine acetylation in the lumen of the ER: a novel and essential function under the control of the UPR.Fishing for causes and cures of motor neuron disorders.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Defective SLC33A1 causes spastic paraplegia 42 (SPG42)Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumenSLC33A1 transports Ac-CoA from cytosol to Golgi lumenNovel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
P2860
Q24306772-0094B9A0-0984-4B1E-9228-CF4E99DF8F03Q24310003-A5FB430D-9F47-4777-9380-29CB96410233Q28081453-D7F66241-B92B-45BE-8D89-9E2951EB624AQ30486743-38BA99A7-0F1E-4A4B-8481-F09C8E43F742Q30777928-6FEF26AC-FB01-4144-8C43-0BE7AD46B815Q33605735-76E5604D-13CA-40DB-BCD9-EC29845BD301Q33711126-2E797B9B-F53A-4B59-B091-58B5F9892A9FQ33915530-E7FE84E5-1671-450B-A123-FABD16AFE4D1Q34114789-854890A4-4D40-4314-8D6E-00AF41BAB1D0Q34129501-A089A1CD-BAD6-4FB0-86F2-F0C8D481B745Q34246902-A115AAD0-6242-4166-ACD8-3D3183DCD1F8Q34264724-54D4F36C-2CB0-45F2-8119-478BEE015368Q34287569-BAB2D437-173A-4902-A76B-889ED9A93DE7Q34476104-0C25C40C-6730-4BC2-AD39-B67C0CFFF62AQ34509754-EC61C451-AF6D-491B-8C88-68A4C79F9DA4Q34555764-603DDE97-4421-43F5-BFCB-B52604A0B9A8Q35896989-51D58505-BF81-45ED-8AA2-D26180945D13Q36683054-ED20AF69-E119-4428-B0A9-D79D414E6001Q37612662-1CE5B867-5B75-40D8-B601-990293633F85Q37817723-5C6D7187-4089-42AA-A5C9-102978EAEF9CQ38006054-36B33050-F509-4999-A16B-8F1345C82469Q38068055-DAD00896-2D8E-4802-BEDC-7C076E046343Q38224042-5B534D28-4595-4E92-9DB3-42997E24584AQ38857876-75B4DAEB-B974-4E59-8FB7-4C47EC56AC15Q45314510-BB037625-1CC0-4F9A-9AEE-2F98417E8DE3Q46045806-A505C50B-3148-4C86-9E2A-90CB84112EF1Q48001042-855BA1BF-A842-4070-B1A3-78F0FA386CA1Q50289024-79722F28-37EC-49FC-8D25-46F2B2F6C9EDQ50299569-D36EE37E-26A1-4DE1-908F-35722D292567Q50742195-0632731F-B853-4495-B270-0CA408434D13Q57970852-4C3780B3-2B50-4962-9171-C28422D1FEE2
P2860
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@ast
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@en
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@nl
type
label
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@ast
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@en
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@nl
prefLabel
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@ast
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@en
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@nl
P2093
P2860
P3181
P1476
A missense mutation in SLC33A1 ...... ant spastic paraplegia (SPG42)
@en
P2093
Chuanzhu Yan
Guimin Gao
Jianwei Li
Jisheng Li
Pengfei Lin
Rongfang Qiu
Wanling Yang
P2860
P304
P3181
P356
10.1016/J.AJHG.2008.11.003
P407
P577
2008-12-01T00:00:00Z