Associated Papers
Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.
Sabir MS et al.
Experimental Neurology, 2026
Sialic acid-Retaled disorders: Advances in pathophysiology, diagnostic challenges, and differentiating mimics.
Assiri I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
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
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.
Cappozzo F 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
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Sabir MS et al.
Jimd Reports, 2025
Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease.
Sabir MS et al.
Biochemistry and Biophysics Reports, 2025
Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.
Sabir MS et al.
Parkinsonism & Related Disorders, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Shinawi M et al.
Molecular Genetics and Metabolism, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.
Sabir MS et al.
Rare (amsterdam, Netherlands), 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model.
Sabir MS et al.
Micropublication Biology, 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
Using team-based precision medicine to advance understanding of rare genetic brain disorders.
Walkley SU et al.
Journal of Neurodevelopmental Disorders, 2024
Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.
Harb JF et al.
Molecular Therapy. Nucleic Acids, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
The molecular mechanism of sialic acid transport mediated by Sialin.
Hu W et al.
Science Advances, 2023
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Free sialic acid storage disorder: Progress and promise.
Huizing M et al.
Neuroscience Letters, 2021
Inherited disorders of lysosomal membrane transporters.
Huizing M et al.
Biochimica Et Biophysica Acta. Biomembranes, 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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
First Patient With Salla Disease Confirmed by Genomic Analysis in Japan.
Matsuura R et al.
Pediatric Neurology, 2018
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
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
A 13-year follow-up of Finnish patients with Salla disease.
Paavola LE et al.
Journal of Neurodevelopmental Disorders, 2015
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.
Couce ML et al.
European Journal of Medical Genetics, 2014
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
Lines MA et al.
Jimd Reports, 2014
Successful prediction of substrate-binding pocket in SLC17 transporter sialin.
Pietrancosta N et al.
The Journal of Biological Chemistry, 2012
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.
Paavola LE et al.
Case Reports in Neurological Medicine, 2012
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
A vesicular transporter that mediates aspartate and glutamate neurotransmission.
Miyaji T et al.
Biological & Pharmaceutical Bulletin, 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
Identification of a vesicular aspartate transporter.
Miyaji T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008