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Article

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

American journal of human genetics - 1 May 2006

Simonaro Calogera M, Park Jae-Ho, Eliyahu Efrat, Shtraizent Nataly, McGovern Margaret M, Schuchman Edward H

Abstract excerpt

Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the disease phenotype. Comparison of the results of genomic sequencing versus reverse-transcriptase...

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Source

Open in PubMed Open full text

Identifiers

PMID: 16642440
DOI: 10.1086/503750
PMCID: PMC1474038

Genes

SMPD1

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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