2008
DOI: 10.1002/ajmg.a.32193
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Molecular order in mucolipidosis II and III nomenclature

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Cited by 64 publications
(54 citation statements)
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“…In the remaining cases, parental DNAs were unavailable for analysis (most of the patient samples had been preserved in the Biobank). All patients exhibited a mild clinical phenotype, thereby providing support for earlier observations that mutations in the GNPTG gene are generally predictive of a milder MLIII phenotype and a better prognosis than GNPTAB gene mutations [Cathey et al, 2008].…”
Section: Mutation Detectionsupporting
confidence: 62%
See 1 more Smart Citation
“…In the remaining cases, parental DNAs were unavailable for analysis (most of the patient samples had been preserved in the Biobank). All patients exhibited a mild clinical phenotype, thereby providing support for earlier observations that mutations in the GNPTG gene are generally predictive of a milder MLIII phenotype and a better prognosis than GNPTAB gene mutations [Cathey et al, 2008].…”
Section: Mutation Detectionsupporting
confidence: 62%
“…The a and b subunits contain the catalytic site of the enzyme and are encoded by the GNPTAB gene on chromosome 12q23.2 (MIM] 607840) [Tiede et al, 2005]. Mutations in the GNPTAB gene are responsible for MLII and MLIII alpha/beta [Paik et al, 2005;Tiede et al, 2005;Kudo et al, 2006;Cathey et al, 2008]. The g subunit (MIM] 607838), which would appear to facilitate recognition of acid hydrolase substrates, is encoded by the 11-exon GNPTG gene located on chromosome 16p13.3 [Raas-Rothschild et al, 2000, 2004Lee et al, 2007;Braulke et al, 2008].…”
Section: Introductionmentioning
confidence: 99%
“…2 In 2000, Raas-Rothschild et al 3 reported that the g subunit is encoded by the GNPTG gene and contributes to the pathology of ML III gamma, formerly described as ML IIIC. 4 Recent cloning of cDNAs for a/b subunits showed that it is encoded by a single gene GNPTAB. 5 GNPTAB is located at chromosome 12q23.3, contains 21 exons and codes 1256 amino acids.…”
Section: Introductionmentioning
confidence: 99%
“…Mutations in the γ-subunit, encoded by the GNPTG gene (MIM# 607838; chromosome 16p13.3), have been reported to be associated with MLIIIC [Raas-Rothschild et al, 2000Tiede et al, 2004]. A more precise knowledge of the molecular basis of the mucolipidoses has led to the adoption of new descriptive terms: MLIIα/β, MLIIIα/β and MLIIIγ, formerly termed MLII (I-cell disease), MLIIIA and MLIIIC, respectively [Cathey et al, 2008].…”
Section: Introductionmentioning
confidence: 99%