Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
about
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 familyTranslational research investigations on ATP7A: an important human copper ATPaseIncreased 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 cancerInborn errors of copper metabolism.The endoplasmic reticulum-based acetyltransferases, ATase1 and ATase2, associate with the oligosaccharyltransferase to acetylate correctly folded polypeptidesWilson's disease and other neurological copper disorders.Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.Newborn screening for lysosomal storage disorders and other neuronopathic conditions.S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Lysine acetylation in the lumen of the ER: a novel and essential function under the control of the UPR.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Chronic diseases and life events accounted for 2-18 % population attributable risks for adult hearing loss: UK Adult Psychiatric Morbidity Survey, 2007.Bioavailable Trace Metals in Neurological Diseases.Orchestration of dynamic copper navigation - new and missing pieces.Leveling the Playing Field in Homozygosity Mapping Using Map Distances.MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.Defective SLC33A1 causes spastic paraplegia 42 (SPG42)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 lumenAP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
P2860
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P2860
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
description
2012 nî lūn-bûn
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2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2012 թվականի հունվարին հրատարակված գիտական հոդված
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
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Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@en
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
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type
label
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@ast
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@en
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@nl
prefLabel
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@ast
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@en
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@nl
P2093
P2860
P50
P1476
Mutations in SLC33A1 cause a l ...... erum copper and ceruloplasmin.
@en
P2093
Callum Wilson
Cornelia Brendel
Gaele Pitelet
Georg Christoph Korenke
Iris Marquardt
Jutta Gärtner
Merle Hillebrand
Orly Elpeleg
Peter Freisinger
Peter Huppke
P2860
P356
10.1016/J.AJHG.2011.11.030
P407
P577
2012-01-01T00:00:00Z