Results 131 to 140 of about 50,057 (258)

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Protecting the proteome: Eukaryotic cotranslational quality control pathways. [PDF]

, 2014
The correct decoding of messenger RNAs (mRNAs) into proteins is an essential cellular task. The translational process is monitored by several quality control (QC) mechanisms that recognize defective translation complexes in which ribosomes are stalled on
Bennett, Eric J, Lykke-Andersen, Jens
core   +2 more sources

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

UPF1-like helicase grip on nucleic acids dictates processivity

Nature Communications, 2018
UPF1 is a highly processive helicase that plays an essential role in nonsense-mediated mRNA decay. Here the authors use single molecule binding assays to establish a functionally important relationship between helicase grip to nucleic acids, binding ...
Joanne Kanaan, Saurabh Raj, Laurence Decourty, Cosmin Saveanu, Vincent Croquette, Hervé Le Hir   +5 more
doaj   +1 more source

Stop that nonsense!

eLife, 2014
Cells can avoid the effects of so-called ‘nonsense’ mutations by several methods, including a newly discovered mechanism driven by microRNA molecules.
Catherine L Jopling
doaj   +1 more source

Human NMD ensues independently of stable ribosome stalling

Nature Communications, 2020
Nonsense-mediated mRNA decay (NMD) was thought to ensue when ribosomes fail to terminate translation properly. However, the authors observe similar ribosome occupancy at stop codons of NMD sensitive and insensitive mRNAs, showing that human NMD is not ...
Evangelos D. Karousis, Lukas-Adrian Gurzeler, Giuditta Annibaldis, René Dreos, Oliver Mühlemann   +4 more
doaj   +1 more source

OsFKBP20‐1b stabilizes OsUPF1 and OsUPF2 to promote the degradation of aberrant mRNAs during dehydration stress

Journal of Integrative Plant Biology, EarlyView.
The rice protein OsFKBP20‐1b protects key RNA‐surveillance factors from breakdown, so they can better eliminate defective messages. This RNA quality‐control boost reduces errors and helps plants survive drought, revealing a link between RNA control and drought tolerance.
Haemyeong Jung, Hyun Ji Park, Seung Hee Jo, Ki‐Hong Jung, Choonkyun Jung, Hye Sun Cho   +5 more
wiley   +1 more source

Optimized TadA‐derived base editors efficiently manipulate mRNA splicing by A‐to‐G and C‐to‐K editing in potato

Journal of Integrative Plant Biology, EarlyView.
Two optimized TadA‐derived base editors efficiently generate diverse splicing variants by targeting specific splice sites in potato. ABSTRACT Pre‐messenger RNA (pre‐mRNA) splicing is a critical mechanism for post‐transcriptional regulation in plants. Through alternative splicing, plants produce diverse transcriptomes and proteomes that finely regulate ...
Kaiyuan Chen, Yan Zhang, Jiuzhou Deng, Lumin Zhang, Huiying Zhou, Yaxin Duan, Enle Xiao, Guangtao Zhu, Chunzhi Zhang   +8 more
wiley   +1 more source

HTLV-1 Tax plugs and freezes UPF1 helicase leading to nonsense-mediated mRNA decay inhibition

Nature Communications, 2018
UPF1 is a central protein in nonsense-mediated mRNA decay (NMD), but contribution of its RNA processivity to NMD is unclear. Here, the authors show how the retroviral Tax protein interacts with and inhibits UPF1, and demonstrate that UPF1’s translocase ...
Francesca Fiorini, Jean-Philippe Robin, Joanne Kanaan, Malgorzata Borowiak, Vincent Croquette, Hervé Le Hir, Pierre Jalinot, Vincent Mocquet   +7 more
doaj   +1 more source

Nonsense‐mediated mRNA decay: novel mechanistic insights and biological impact

Wiley Interdisciplinary Reviews - RNA, 2016
Nonsense‐mediated mRNA decay (NMD) was originally coined to define a quality control mechanism that targets mRNAs with truncated open reading frames due to the presence of a premature termination codon.
E. Karousis, Sofia Nasif, O. Mühlemann
semanticscholar   +1 more source