Associated Papers
Central Dysmyelination in SSADH-Deficient Humans and Mice.
Tokatly Latzer I et al.
Annals of Clinical and Translational Neurology, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons.
Afshar-Saber W et al.
Biorxiv : the Preprint Server for Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA et al.
Journal of Inherited Metabolic Disease, 2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I et al.
Journal of Neurodevelopmental Disorders, 2024
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Afshar-Saber W et al.
Neurobiology of Disease, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Glinton KE et al.
Frontiers in Genetics, 2024
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Developmental Medicine and Child Neurology, 2023
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I et al.
Human Genetics, 2023
Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
Parezanović M et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.
Jessen-Howard D et al.
International Journal of Molecular Sciences, 2023
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Epilepsia, 2023
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Brennenstuhl H et al.
International Journal of Molecular Sciences, 2020
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
DiBacco ML et al.
Neurology, 2020
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M et al.
Cells, 2020
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Brown M et al.
Molecular Genetics & Genomic Medicine, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
Leo S et al.
Metabolic Brain Disease, 2017
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
Püttmann L et al.
American Journal of Medical Genetics. Part A, 2013
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Pearl PL et al.
Brain & Development, 2011
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.
Kim KJ et al.
Antioxidants & Redox Signaling, 2011
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Knerr I et al.
Pediatric Neurology, 2010
The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions.
Langendorf CG et al.
Plos One, 2010
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
Pearl PL et al.
Journal of Inherited Metabolic Disease, 2009
Redox-switch modulation of human SSADH by dynamic catalytic loop.
Kim YG et al.
The Embo Journal, 2009
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.
Malaspina P et al.
Human Genomics, 2009
Syndromic Autism Spectrum Disorder: Let Us Not Forget about Succinic Semialdehyde Dehydrogenase Deficiency. A Case Report with Literature Review.
Posar A et al.
Journal of Pediatric Neurosciences, 0