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Article

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

The international journal of biochemistry & cell biology - 1 Nov 2017

Ludwig Nataniel Floriano, Velho Renata Voltolini, Sperb-Ludwig Fernanda, Acosta Angelina Xavier, Ribeiro Erlane Marques, Kim Chong A, Gandelman Horovitz Dafne Dain, Boy Raquel, Rodovalho-Doriqui Maria Juliana, Lourenço Charles Marques, Santos Emerson Santana, Braulke Thomas, Pohl Sandra, Schwartz Ida Vanessa D

Abstract excerpt

Mucolipidoses (ML) II and III alpha/beta are lysosomal storage diseases caused by pathogenic mutations in GNPTAB encoding the α⁄β-subunit precursor of GlcNAc-1-phosphotransferase. To determine genotype-phenotype correlation and functional analysis of mutant GlcNAc-1-phosphotransferase, 13 Brazilian patients clinically and biochemical diagnosed for MLII or III alpha/beta were studied. By sequencing of genomic...

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Identifiers

PMID: 28918368
DOI: 10.1016/j.biocel.2017.09.006

Genes

GNPTAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.PMID 28918368Read ↗

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