Cargando…

Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22) occupies a central position in central nervous system (CNS) neurotransmitter metabolism as one of two enzymes necessary for γ-aminobutyric acid (GABA) recycling from the synaptic cleft. Its importance is hi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Malaspina, Patrizia, Picklo, Matthew J, Jakobs, C, Snead, O Carter, Gibson, K Michael
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657722/ https://www.ncbi.nlm.nih.gov/pubmed/19164088 http://dx.doi.org/10.1186/1479-7364-3-2-106

Ejemplares similares

Succinic Semialdehyde Dehydrogenase Deficiency: An Update
por: Didiasova, Miroslava, et al.
Publicado: (2020)

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development
por: Jansen, Erwin EW, et al.
Publicado: (2008)

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
por: Alghamdi, Malak Ali, et al.
Publicado: (2020)

Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids
por: Wernli, C., et al.
Publicado: (2016)

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
por: Niemi, Anna-Kaisa, et al.
Publicado: (2014)

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
por: Parezanović, M, et al.
Publicado: (2023)

Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice
por: Brown, Madalyn N., et al.
Publicado: (2020)

Acute Psychotic Syndrome in a Male Adolescent with Succinic Semialdehyde Dehydrogenase Deficiency
por: Kontoangelos, Konstantinos, et al.
Publicado: (2019)

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
por: Phakey, Sachin, et al.
Publicado: (2020)

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency
por: Wang, Ping, et al.
Publicado: (2019)

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
por: Yoganathan, Sangeetha, et al.
Publicado: (2020)

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency
por: Brown, Madalyn, et al.
Publicado: (2020)

Aberrant GABA(A) Receptor-Mediated Inhibition in Cortico-Thalamic Networks of Succinic Semialdehyde Dehydrogenase Deficient Mice
por: Errington, Adam C., et al.
Publicado: (2011)

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells
por: Vogel, Kara R., et al.
Publicado: (2017)

GABA, glutamine, glutamate oxidation and succinic semialdehyde dehydrogenase expression in human gliomas
por: Hujber, Zoltán, et al.
Publicado: (2018)

Effect of Salt Stress on the Activity, Expression, and Promoter Methylation of Succinate Dehydrogenase and Succinic Semialdehyde Dehydrogenase in Maize (Zea mays L.) Leaves
por: Fedorin, Dmitry N., et al.
Publicado: (2022)

Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine
por: Lee, Henry H. C., et al.
Publicado: (2022)

Kinetic and Structural Characterization for Cofactor Preference of Succinic Semialdehyde Dehydrogenase from Streptococcus pyogenes
por: Jang, Eun Hyuk, et al.
Publicado: (2014)

Isocitrate Lyase and Succinate Semialdehyde Dehydrogenase Mediate the Synthesis of α-Ketoglutarate in Pseudomonas fluorescens
por: Alhasawi, Azhar A., et al.
Publicado: (2019)

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female
por: Brown, Madalyn, et al.
Publicado: (2019)

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
por: Kirby, Trevor, et al.
Publicado: (2020)

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog
por: Vernau, Karen M., et al.
Publicado: (2020)

Kinetic and structural insights into enzymatic mechanism of succinic semialdehyde dehydrogenase from Cyanothece sp. ATCC51142
por: Xie, Congcong, et al.
Publicado: (2020)

Succinate dehydrogenase‐deficient malignant paraganglioma complicated by succinate dehydrogenase‐deficient renal cell carcinoma
por: Yamaguchi, Yoshitomo, et al.
Publicado: (2022)

Syndromic Autism Spectrum Disorder: Let Us Not Forget about Succinic Semialdehyde Dehydrogenase Deficiency. A Case Report with Literature Review
por: Posar, Annio, et al.
Publicado: (2020)

Mutants of GABA Transaminase (POP2) Suppress the Severe Phenotype of succinic semialdehyde dehydrogenase (ssadh) Mutants in Arabidopsis
por: Ludewig, Frank, et al.
Publicado: (2008)

The X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP(+)/Enzyme Interactions
por: Langendorf, Christopher G., et al.
Publicado: (2010)

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency
por: Chen, Xiaodan, et al.
Publicado: (2022)

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
por: Brennenstuhl, Heiko, et al.
Publicado: (2020)

Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas
por: Gill, Anthony J., et al.
Publicado: (2014)

Alcohol dehydrogenase and aldehyde dehydrogenase in malignant neoplasms
por: Orywal, Karolina, et al.
Publicado: (2016)

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
por: Dudek, Jan, et al.
Publicado: (2015)

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST
por: Belinsky, Martin G., et al.
Publicado: (2017)

Rapamycin as a potential treatment for succinate dehydrogenase deficiency
por: Fan, Frances, et al.
Publicado: (2019)

Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2020)

Structural characterization of aspartate-semialdehyde dehydrogenase from Pseudomonas aeruginosa and Neisseria gonorrhoeae
por: Teakel, S. L., et al.
Publicado: (2022)

Gene Therapy Correction of Aldehyde Dehydrogenase 2 Deficiency
por: Matsumura, Yuki, et al.
Publicado: (2019)

Succinate Dehydrogenase Deficiency in Pediatric and Adult Gastrointestinal Stromal Tumors
por: Belinsky, Martin G., et al.
Publicado: (2013)

Role of succinate dehydrogenase deficiency and oncometabolites in gastrointestinal stromal tumors
por: Zhao, Yue, et al.
Publicado: (2020)

Imaging findings of succinate dehydrogenase‐deficient renal cell carcinoma
por: Liu, Wenqin, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_vtvdg8ctanc9kdjq5t89d4kpae