Results 31 to 40 of about 50,057 (258)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Exon junction complex dependent mRNA localization is linked to centrosome organization during ciliogenesis

Nature Communications, 2021
Exon junction complexes (EJCs) that mark untranslated mRNA are involved in transport, translation and nonsense-mediated mRNA decay. Here the authors show centrosomal localization of EJCs which appears to be required for both the localization of NIN mRNA ...
Oh Sung Kwon, Rahul Mishra, Adham Safieddine, Emeline Coleno, Quentin Alasseur, Marion Faucourt, Isabelle Barbosa, Edouard Bertrand, Nathalie Spassky, Hervé Le Hir   +9 more
doaj   +1 more source

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]

, 2019
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B, Baets, J, Beijer, D, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Dotti, MT, López de Munain, A, Malandrini, A, Urtizberea, JA, Zulaica, M   +10 more
core   +1 more source

Nonsense mRNA suppression via nonstop decay

eLife, 2018
Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ...
Joshua A Arribere, Andrew Z Fire
doaj   +1 more source

Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]

, 2013
One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P, Cajigas, Iván J, Correa, María E, Estrella, Luis A, González, Carlos I, González-Feliciano, José A, Lasalde, Clarivel, León, Alfredo J, Rivera, Andrea V, Rodríguez-Cruz, Eva N, Vega, Irving E, Wilkinson, Miles F   +11 more
core   +1 more source

Coupled protein quality control during nonsense-mediated mRNA decay. [PDF]

J Cell Sci, 2023
ABSTRACT Translation of mRNAs containing premature termination codons (PTCs) results in truncated protein products with deleterious effects. Nonsense-mediated decay (NMD) is a surveillance pathway responsible for detecting PTC containing transcripts.
Inglis AJ, Guna A, Gálvez-Merchán Á, Pal A, Esantsi TK, Keys HR, Frenkel EM, Oania R, Weissman JS, Voorhees RM.   +9 more
europepmc   +6 more sources

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

BMC Medical Genetics, 2020
Background Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.
Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao   +8 more
doaj   +1 more source

Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay.

Genes & Development, 2006
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNA containing premature termination codons (PTCs). In mammalian cells, recognition of PTCs requires translation and depends on the presence on the mRNA with the splicing ...
Isao Kashima, A. Yamashita, Natsuko Izumi, N. Kataoka, R. Morishita, S. Hoshino, M. Ohno, G. Dreyfuss, S. Ohno   +8 more
semanticscholar   +1 more source

Caffeine boosts Ataluren's readthrough activity

Heliyon, 2019
The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF).
Laura Lentini, Raffaella Melfi, Patrizia Cancemi, Ivana Pibiri, Aldo Di Leonardo   +4 more
doaj   +1 more source

From Yeast to Mammals, the Nonsense-Mediated mRNA Decay as a Master Regulator of Long Non-Coding RNAs Functional Trajectory

Non-Coding RNA, 2021
The Nonsense-Mediated mRNA Decay (NMD) has been classically viewed as a translation-dependent RNA surveillance pathway degrading aberrant mRNAs containing premature stop codons.
Sara Andjus, Antonin Morillon, Maxime Wery   +2 more
doaj   +1 more source