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Article

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

American journal of human genetics - 13 Jul 2012

Staropoli John F, Karaa Amel, Lim Elaine T, Kirby Andrew, Elbalalesy Naser, Romansky Stephen G, Leydiker Karen B, Coppel Scott H, Barone Rosemary, Xin Winnie, MacDonald Marcy E, Abdenur Jose E, Daly Mark J, Sims Katherine B, Cotman Susan L

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) is a genetically heterogeneous group of lysosomal diseases that collectively compose the most common Mendelian form of childhood-onset neurodegeneration. It is estimated that ∼8% of individuals diagnosed with NCL by conservative clinical and histopathologic criteria have been ruled out for mutations in the nine known NCL-associated genes, suggesting that additional genes...

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Identifiers

PMID: 22748208
DOI: 10.1016/j.ajhg.2012.05.023
PMCID: PMC3397260

Genes

KCTD7
NCL
CLN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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