Associated Papers
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.
Sabir MS et al.
Molecular Genetics and Metabolism Reports, 2025
The First Report of Putaminal Cysts in the Familial Series of Dystonia Associated with Salla Disease-the Phenotype Expanded.
Macken E et al.
Movement Disorders Clinical Practice, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Sabir MS et al.
Jimd Reports, 2025
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).
Sabir MS et al.
Stem Cell Research, 2024
Structure and inhibition of the human lysosomal transporter Sialin.
Schmiege P et al.
Nature Communications, 2024
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A et al.
Pediatric Neurology, 2023
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.
Hashim M et al.
Clinical Genetics, 2023
The molecular mechanism of sialic acid transport mediated by Sialin.
Hu W et al.
Science Advances, 2023
Free sialic acid storage disorder: Progress and promise.
Huizing M et al.
Neuroscience Letters, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin.
Dubois L et al.
Journal of Medicinal Chemistry, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
Tarailo-Graovac M et al.
Orphanet Journal of Rare Diseases, 2017
Functional characterization of vesicular excitatory amino acid transport by human sialin.
Miyaji T et al.
Journal of Neurochemistry, 2011
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
Mochel F et al.
Neurology, 2010
Free sialic acid storage disease without sialuria.
Mochel F et al.
Annals of Neurology, 2009
Molecular and cellular basis of lysosomal transmembrane protein dysfunction.
Ruivo R et al.
Biochimica Et Biophysica Acta, 2009
Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.
Ruivo R et al.
Biology of the Cell, 2008
Molecular physiology and pathophysiology of lysosomal membrane transporters.
Sagné C et al.
Journal of Inherited Metabolic Disease, 2008
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Biancheri R et al.
Neurogenetics, 2005
Varied mechanisms underlie the free sialic acid storage disorders.
Wreden CC et al.
The Journal of Biological Chemistry, 2005
Functional characterization of wild-type and mutant human sialin.
Morin P et al.
The Embo Journal, 2004
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Aula N et al.
American Journal of Human Genetics, 2000
[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
Eto Y
Ryoikibetsu Shokogun Shirizu, 1998
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Yano T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995