Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.
Didiasova M et al.
International Journal of Molecular Sciences, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA et al.
Journal of Inherited Metabolic Disease, 2024
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT et al.
Research Square, 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
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Cerminara M et al.
Frontiers in Genetics, 2021
SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult.
Menduti G et al.
International Journal of Molecular Sciences, 2020
Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease.
Ciminelli BM et al.
Journal of Alzheimer's Disease : Jad, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Menduti G et al.
Molecular Genetics and Metabolism, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
SSADH deficiency possibly associated with enzyme activity-reducing SNPs.
Akiyama T et al.
Brain & Development, 2016
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.
Malaspina P et al.
Neurochemistry International, 2016
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
Tay CG et al.
Journal of Child Neurology, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment.
Fonseca F et al.
European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology, 2014
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
Jiang SZ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
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
The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions.
Langendorf CG et al.
Plos One, 2010
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
Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.
De Rango F et al.
Annals of Human Genetics, 2008
SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions.
Blasi P et al.
Journal of Molecular Evolution, 2006
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Lorenz S et al.
Neuroscience Letters, 2006
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Blasi P et al.
Clinical Genetics, 2006
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Akaboshi S et al.
Human Mutation, 2003
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
A human derived SSADH coding variant is replacing the ancestral allele shared with primates.
Leone O et al.
Annals of Human Biology, 0