Results 241 to 250 of about 270,676 (398)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Npac Regulates Pre-mRNA Splicing in Mouse Embryonic Stem Cells. [PDF]

Int J Mol Sci
Qian Y, Ye Y, Zhang W, Wu Q.
europepmc   +1 more source

Transcriptome sequencing suggests that pre-mRNA splicing counteracts widespread intronic cleavage and polyadenylation. [PDF]

NAR Genom Bioinform, 2023
Vlasenok M, Margasyuk S, Pervouchine DD.
europepmc   +1 more source

AAR2, a gene for splicing pre-mRNA of the MATa1 cistron in cell type control of Saccharomyces cerevisiae.

, 1991
N Nakazawa, Satoshi Harashima, Y Oshima
openalex   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

RNPS1 in PSAP complex controls periodic pre-mRNA splicing over the cell cycle. [PDF]

iScience
Fukumura K, Masuda A, Takeda JI, Nagano O, Saya H, Ohno K, Mayeda A.   +6 more
europepmc   +1 more source

Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts. [PDF]

Nat Struct Mol Biol, 2023
Choquet K, Baxter-Koenigs AR, Dülk SL, Smalec BM, Rouskin S, Churchman LS.   +5 more
europepmc   +1 more source

RNA Polymerase II Targets Pre-mRNA Splicing Factors to Transcription Sites In Vivo [PDF]

, 1999
Tom Misteli, David L. Spector
openalex   +1 more source

SPF45-related splicing factor for phytochrome signaling promotes photomorphogenesis by regulating pre-mRNA splicing in Arabidopsis

Proceedings of the National Academy of Sciences of the United States of America, 2017
Ruijiao Xin, Ling Zhu, Patrice A. Salomé, Estefanía Mancini, C. Marshall, F. Harmon, M. Yanovsky, D. Weigel, E. Huq   +8 more
semanticscholar   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source