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Article

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

Human molecular genetics - 1 Mar 2010

Cheli Verónica T, Daniels Richard W, Godoy Ruth, Hoyle Diego J, Kandachar Vasundhara, Starcevic Marta, Martinez-Agosto Julian A, Poole Stephen, DiAntonio Aaron, Lloyd Vett K, Chang Henry C, Krantz David E, Dell'Angelica Esteban C

Abstract excerpt

Biogenesis of lysosome-related organelles complex 1 (BLOC-1) is a protein complex formed by the products of eight distinct genes. Loss-of-function mutations in two of these genes, DTNBP1 and BLOC1S3, cause Hermansky-Pudlak syndrome, a human disorder characterized by defective biogenesis of lysosome-related organelles. In addition, haplotype variants within the same two genes have been postulated to increase the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20015953
DOI: 10.1093/hmg/ddp555
PMCID: PMC2816613

Genes

DTNBP1

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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Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.PMID 20015953Read ↗

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