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Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
BMC Med Genomics
February 2024
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, , Tehran, Iran.
Background: Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH lack sufficient information, which highlights the importance of investigating and introducing more cases to further elucidate the clinical, radiological, and biochemical features of these disorders. The aim of this study is to provide an in-depth review of PCH and to identify disease genes and their inheritance patterns in 12 distinct Iranian families with clinically confirmed PCH.
View Article and Find Full Text PDFStructural basis for the tRNA-dependent activation of the terminal complex of selenocysteine synthesis in humans.
Nucleic Acids Res
May 2023
Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL60607, USA.
Article Synopsis
- O-Phosphoseryl-tRNASec selenium transferase (SepSecS) plays a crucial role in the final step of selenocysteine synthesis in archaea and eukaryotes, highlighting its importance in maintaining the selenoproteome.
- Recent high-resolution X-ray crystallography studies reveal that the binding of tRNASec induces conformational changes in SepSecS, essential for its catalytic function, by organizing active sites and stabilizing the protein's structure.
- The formation of the productive SepSecS•tRNASec complex is driven by electrostatic interactions, providing new insights into the mechanisms behind selenocysteine formation in these organisms.
Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.
Cerebellum
October 2023
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Pontocerebellar hypoplasia type 2D (PCH2D) caused by SEPSECS gene mutations is very rare and only described in a few case reports. In this study, we analyzed the clinical features and imaging findings of these individuals, so as to provide references for the clinic. We reported a case of PCH2D caused by a new complex heterozygote mutation in SEPSECS gene, and reviewed the literatures to summarize the clinical features and imaging findings and compare the differences between early-onset patients (EOPs) and late-onset patients (LOPs).
View Article and Find Full Text PDFBringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene.
Neurologia (Engl Ed)
October 2022
Servicio de Neurología, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the Gene.
Front Pediatr
January 2022
Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Mutations in the human -phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene ( are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with mutations. Herein we report a case with severe global developmental delay, myogenic changes in the lower limbs, and insomnia, but without progressive microcephaly and brain atrophy during infancy and toddlerhood in a child harboring the missense variant c.
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