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Article

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

1 Dec 2008

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 19061983
DOI: 10.1016/j.ajhg.2008.11.003

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A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)PMID 19061983Read ↗

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.Semantic proximity Read ↗

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.Semantic proximity Read ↗

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).Semantic proximity Read ↗

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.Semantic proximity Read ↗

A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.Semantic proximity Read ↗

Deficient Import of Acetyl-CoA into the ER Lumen Causes Neurodegeneration and Propensity to Infections, Inflammation, and CancerSemantic proximity Read ↗

A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and functionSemantic proximity Read ↗

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.Semantic proximity Read ↗

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night BlindnessSemantic proximity Read ↗

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