Mutations in Sialidosis Impair Sialidase Binding to the Lysosomal Multienzyme Complex
Open Access
- 1 May 2001
- journal article
- Published by Elsevier
- Vol. 276 (20), 17286-17290
- https://doi.org/10.1074/jbc.m100460200
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further caseClinical Genetics, 2008
- Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis)Developmental Neuroscience, 1991
- Disorders of glycoprotein degradationJournal of Inherited Metabolic Disease, 1990
- The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: Possible linkage between HLA and the neuraminidase deficiency geneHuman Genetics, 1985
- Macular cherry-red spot and myoclonus syndromeJournal of the Neurological Sciences, 1980
- A severe infantile sialidosis: Clinical, biochemical, and microscopic featuresThe Journal of Pediatrics, 1980
- Cherry-Red Spot-Myoclonus SyndromeOphthalmology, 1979
- The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiencyClinical Genetics, 1978
- The cherry‐red spot‐myoclonus syndromeAnnals of Neurology, 1978
- Isolated acid neuraminidase deficiency: A distinct lysosomal storage diseaseAmerican Journal of Medical Genetics, 1977