Results 121 to 130 of about 44,110 (224)

Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis. [PDF]

Cochrane Database Syst Rev, 2023
Aslam AA, Sinha IP, Southern KW.
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

393 Harnessing the potential of transcriptional adaptation as a mechanism for rare Amyotrophic lateral sclerosis

Journal of Clinical and Translational Science
OBJECTIVES/GOALS: Transcriptional adaptation is a phenomenon in which a mutation in one gene leads to the genetic compensation of another homogenous gene.
Adriana Morales Gomez, Nathan Staff, Stephen C. Ekker   +2 more
doaj   +1 more source

A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124. [PDF]

Biomedicines, 2023
Chen CC, Liao RY, Yeh FY, Lin YR, Wu TY, Pastor AE, Zul DD, Hsu YC, Wu KY, Liu KF, Kannagi R, Chen JY, Cai BH.   +12 more
europepmc   +1 more source

Selective targeting of cortactin tandem repeat acetylation by human lysine deacetylases

The FEBS Journal, EarlyView.
Cortactin function is regulated by acetylation at several lysine residues within its tandem repeat region. Using genetic code expansion to generate cortactin variants containing precisely defined acetylation marks, we show that HDAC6 is the primary enzyme removing these modifications, with SIRT1 and SIRT2 also acting at selected sites but with lower ...
Jan Komarek, Miroslava Vosahlikova, Zsofia Kutil, Zora Novakova, Julia Kudlacova, Ruzena Tuckova, Marat Meleshin, Barbora Havlinova, Pavlina Jaklova, Jana Ptackova, Cordelia Schiene‐Fischer, Mike Schutkowski, Cyril Barinka   +12 more
wiley   +1 more source

GCN2 in proteostasis: structural logic, signalling networks and disease

The FEBS Journal, EarlyView.
Threats to protein synthesis activate the kinase GCN2, initiating the integrated stress response (ISR). GCN2 is triggered by stalled ribosomes and uncharged tRNAs, which accumulate when amino acids are scarce. The ISR adjusts cellular physiology by promoting redox balance, protein quality control, and mitochondrial optimisation.
JiaYi Zhu, Stefan J. Marciniak
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Genetic dissection reveals distinct contributions of the eS31 N‐terminal domain to translational accuracy in Saccharomyces cerevisiae

The FEBS Journal, EarlyView.
The eukaryote‐specific N‐terminal domain (NTD) of eS31 uses two distinct strategies to maintain translation fidelity. During elongation, a positively charged “hotspot” fine‐tunes the selection of incoming aa‐tRNA. During termination, the entire NTD acts as a structural scaffold to ensure the correct positioning of the release factor eRF1.
Qingxuan Gao, Hiroshi Otsuka, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

Letter to the Editor: Liver Cell Models for Premature Termination Codon Readthrough Analyses. [PDF]

Hepatology, 2021
Matakovic L, Li Q, van Ijzendoorn SCD.
europepmc   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source