ArticleAmerican journal of human genetics2012
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 56 papers.
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56 citing papers in PubMed, 101 citations in OpenAlex.
- Drug-resistant epilepsy in an autosomal recessive copper metabolism disorder from SLC33A1 mutation.Epilepsy & behavior reports · 2026Article
- Metabolite import by SLC33A1 is required for ATF6 activation during endoplasmic reticulum stress.Life science alliance · 2026Article
- SLC33A1-mediated glutathione transport regulates ER redox balance and function.Nature cell biology · 2026Article
- SLC33A1 exports oxidized glutathione to maintain endoplasmic reticulum redox homeostasis.Nature cell biology · 2026Article
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Interplay of SLC33A1-dependent and -independent Golgi sialic acid O-acetylation in CASD1 catalysis.Nature communications · 2026Article
- SLC33A1 exports oxidized glutathione to maintain endoplasmic reticulum redox homeostasis.bioRxiv : the preprint server for biology · 2026Article
- Trace Elements and Viral Infectious Diseases: Dual Roles in Pathogenesis and Immunity.Infectious disease reports · 2026Review
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.Human genetics · 2025Article
- Serum copper modulates cognitive function in diabetic patients via an HDL-C-mediated pathway: identification of a 25 µg/dL exploratory threshold.Diabetology & metabolic syndrome · 2025Article
- Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.Brain communications · 2025Article
- Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.JIMD reports · 2024Article
- Cuproptosis and Cu: a new paradigm in cellular death and their role in non-cancerous diseases.Apoptosis : an international journal on programmed cell death · 2024Review
- The Human Ganglioside Interactome in Live Cells Revealed Using Clickable Photoaffinity Ganglioside Probes.Journal of the American Chemical Society · 2024Article
- Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.BMC pediatrics · 2024Review
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.Indian journal of pediatrics · 2023Article
- Mitochondrial copper in human genetic disorders.Trends in endocrinology and metabolism: TEM · 2023Review
- Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.Journal of applied genetics · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
20 authors at 14 institutions in 8 countries.
Funding
Abstract
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in SLC33A1 encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization of the protein. We also showed that AT-1 knockdown in HepG2 cells leads to reduced ceruloplasmin secretion, indicating that the low copper in serum is due to reduced ceruloplasmin levels and is not a sign of copper deficiency. The severity of the phenotype implies an essential role of AT-1 in proper posttranslational modification of numerous proteins, without which normal lens and brain development is interrupted. Furthermore, AT-1 defects are a new and important differential diagnosis in patients with low copper and ceruloplasmin in serum.
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