An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: A candidate molecule for MPS IIIC-Reference-Cited by-同舟云学术

An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: A candidate molecule for MPS IIIC

Published:2006-01 Issue:1 Volume:87 Page:22-31
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ausseil Jérôme,Landry Karine,Seyrantepe Volkan,Trudel Stéphanie,Mazur Alexander,Lapointe Fanny,Pshezhetsky Alexey V.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. Clinical and biochemical findings in a family with Sanfilippo disease type C;Kresse;Clin. Genet.,1976

2. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts;Klein;Proc. Natl. Acad. Sci. USA,1978

3. Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals;Klein;Clin. Genet.,1981

4. Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III;Bartsocas;Eur. J. Pediatr.,1979

5. Cellular location of N-acetyltransferase activities toward glucosamine and glucosamine-6-phosphate in cultured human skin fibroblasts;Hopwood;Biochem. Int.,1983

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Structure of the human heparan-α-glucosaminideN-acetyltransferase (HGSNAT);2023-10-25

2. Carbohydrate-Processing Enzymes of the Lysosome;Advances in Carbohydrate Chemistry and Biochemistry;2016

3. Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy;Genetic Disorders and the Fetus;2015-11-23

4. Bioanalysis of Eukaryotic Organelles;Chemical Reviews;2013-04-10

5. RUTBC2 Protein, a Rab9A Effector and GTPase-activating Protein for Rab36;Journal of Biological Chemistry;2012-06