Quality and quantity control of gene expression by nonsense-mediated mRNA decay

T Kurosaki, MW Popp, LE Maquat - Nature reviews Molecular cell …, 2019 - nature.com
Nonsense-mediated mRNA decay (NMD) is one of the best characterized and most
evolutionarily conserved cellular quality control mechanisms. Although NMD was first found …

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

V Pingault, L Zerad, W Bertani-Torres… - Journal of Medical …, 2022 - jmg.bmj.com
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group
box-containing (SOX) proteins, most of which contribute to cell type specification and …

Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles

Z Coban-Akdemir, JJ White, X Song… - The American Journal of …, 2018 - cell.com
Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-
mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs …

Nonsense-mediated decay in genetic disease: friend or foe?

JN Miller, DA Pearce - Mutation Research/Reviews in Mutation Research, 2014 - Elsevier
Eukaryotic cells utilize various RNA quality control mechanisms to ensure high fidelity of
gene expression, thus protecting against the accumulation of nonfunctional RNA and the …

Ribosome recycling by ABCE1 links lysosomal function and iron homeostasis to 3ʹ UTR-directed regulation and nonsense-mediated decay

X Zhu, H Zhang, JT Mendell - Cell Reports, 2020 - cell.com
Nonsense-mediated decay (NMD) is a pathway that degrades mRNAs containing premature
termination codons. Here we describe a genome-wide screen for NMD factors that uncovers …

Transmembrane potential of GlyCl-expressing instructor cells induces a neoplastic-like conversion of melanocytes via a serotonergic pathway

D Blackiston, DS Adams, JM Lemire… - Disease models & …, 2011 - journals.biologists.com
Understanding the mechanisms that coordinate stem cell behavior within the host is a high
priority for developmental biology, regenerative medicine and oncology. Endogenous ion …

The Yin and Yang of Sox proteins: Activation and repression in development and disease

LJ Chew, V Gallo - Journal of neuroscience research, 2009 - Wiley Online Library
The general view of development consists of the acquisition of committed/differentiated
phenotypes following a period of self‐renewal and progenitor expansion. Lineage …

Disrupted ER membrane protein complex–mediated topogenesis drives congenital neural crest defects

J Marquez, J Criscione, RM Charney… - The Journal of …, 2020 - Am Soc Clin Investig
Multipass membrane proteins have a myriad of functions, including transduction of cell-cell
signals, ion transport, and photoreception. Insertion of these proteins into the membrane …

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

W Chen, J Lin, L Wang, X Li, S Zhao, J Liu… - Human …, 2020 - Wiley Online Library
Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical
manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS …

A pan-cancer analysis reveals nonstop extension mutations causing SMAD4 tumour suppressor degradation

S Dhamija, CM Yang, J Seiler, K Myacheva… - Nature cell …, 2020 - nature.com
Nonstop or stop-loss mutations convert a stop into a sense codon, resulting in translation
into the 3′ untranslated region as a nonstop extension mutation to the next in-frame stop …