Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
P Majethia, N Kaur, S Mascarenhas, LP Rao… - Clinical …, 2024 - Wiley Online Library
The application of genomic technologies has led to unraveling of the complex genetic
landscape of disorders of epilepsy, gaining insights into their underlying disease …
landscape of disorders of epilepsy, gaining insights into their underlying disease …
Key structural role of a conserved cis-proline revealed by the P285S variant of soybean serine hydroxymethyltransferase 8
V Samarakoon, LF Owuocha, J Hammond… - Biochemical …, 2024 - portlandpress.com
The enzyme serine hydroxymethyltransferase (SHMT) plays a key role in folate metabolism
and is conserved in all kingdoms of life. SHMT is a pyridoxal 5 0-phosphate (PLP) …
and is conserved in all kingdoms of life. SHMT is a pyridoxal 5 0-phosphate (PLP) …
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum
H Pan, M He, X Luo, J Hu, X Mao, Y Cheng, Z Liu - Neurogenetics, 2025 - Springer
Biallelic variants in SHMT2 cause neurodevelopmental disorders with cardiomyopathy,
spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described …
spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described …
Impairments in SHMT2 expression or cellular folate availability reduce oxidative phosphorylation and pyruvate kinase activity
JL Fiddler, JE Blum, KE Heyden, LF Castillo… - Genes & Nutrition, 2023 - Springer
Abstract Background Serine hydroxymethyltransferase 2 (SHMT2) catalyzes the reversible
conversion of tetrahydrofolate (THF) and serine-producing THF-conjugated one-carbon …
conversion of tetrahydrofolate (THF) and serine-producing THF-conjugated one-carbon …
Mild Neurodevelopmental Disorder Due to SHMT2 Mutations: Expanding the Phenotypic Spectrum
H Pan, M He, X Luo, J Hu, X Mao, Y Cheng, Z Liu - 2024 - researchsquare.com
Biallelic mutations in SHMT2 cause neurodevelopmental disorders with cardiomyopathy,
spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described …
spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described …