Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova, Tatyana; Ludwig, Nataniel F; Velho, Renata V; Harms, Frederike L; Günes, Nilay; Tidow, Henning; Schwartz, Ida V; Tüysüz, Beyhan; Pohl, Sandra

Danyukova, Tatyana; Ludwig, Nataniel F; Velho, Renata V; Harms, Frederike L; Günes, Nilay; Tidow, Henning; Schwartz, Ida V; Tüysüz, Beyhan; Pohl, Sandra.

Affiliation

Danyukova T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Ludwig NF; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Velho RV; Postgraduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Harms FL; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Günes N; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Tidow H; Department of Pediatric Genetics, Istanbul University Cerrahpasa, Medicine School, Istanbul, Turkey.
Schwartz IV; The Hamburg Centre for Ultrafast Imaging and Department of Chemistry, Institute for Biochemistry and Molecular Biology, University of Hamburg, Hamburg, Germany.
Tüysüz B; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Pohl S; Postgraduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

Hum Mutat ; 41(1): 133-139, 2020 01.

Article in En | MEDLINE | ID: mdl-31579991

Subject(s)

Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/genetics; Genetic Predisposition to Disease; Mucolipidoses/diagnosis; Mucolipidoses/genetics; Mutation, Missense; Transferases (Other Substituted Phosphate Groups)/genetics; Alleles; Amino Acid Sequence; Catalysis; Fluorescent Antibody Technique; Gene Expression; Genetic Association Studies; Genotype; Humans; Phenotype; Substrate Specificity; Transferases (Other Substituted Phosphate Groups)/chemistry; Transferases (Other Substituted Phosphate Groups)/metabolism

Key words

GNPTAB; GlcNAc-1-phosphotransferase; catalytic activity; lysosomal storage disorder; site-1 protease; stealth domains

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Transferases (Other Substituted Phosphate Groups) / Genetic Predisposition to Disease / Mutation, Missense / Mucolipidoses Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Germany

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