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Article

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

Molecular genetics and metabolism - 1 May 2009

Macías-Vidal Judit, Gort Laura, Lluch Montse, Pineda Mercè, Coll Maria Josep

Abstract excerpt

Mutations in NPC1 or NPC2 genes are responsible of Niemann-Pick type C disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by a non-regulation of intracellular lipid trafficking. Alterations such as nonsense or frame shift mutations generate a premature termination-codon (PTC). Nonsense-mediated mRNA decay (NMD) is a natural cellular process that degrades mRNAs that...

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Source

Identifiers

PMID: 19223215
DOI: 10.1016/j.ymgme.2009.01.007

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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