Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.

Fibroblasts from patients with I-cell disease (mucolipidosis II) or with pseudo Hurler polydystrophy (mucolipidosis III) are markedly deficient in UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. As a consequence, the common phosphomannosyl recognition marker of aci...

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Detalhes bibliográficos
Main Authors: Varki, A P, Reitman, M L, Kornfeld, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1981
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC349353/
https://ncbi.nlm.nih.gov/pubmed/6461005
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