Results 101 to 110 of about 24,694 (278)

BMS1 is mutated in aplasia cutis congenita. [PDF]

PLoS Genetics, 2013
Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ...
Alexander G Marneros
doaj   +1 more source

Composition of the Survival Motor Neuron (SMN) complex in Drosophila melanogaster [PDF]

, 2018
Spinal Muscular Atrophy (SMA) is caused by homozygous mutations in the human survival motor neuron 1 (SMN1) gene. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome.
Baillat, David, Droby, Gaith N., Gray, Kelsey M., Kelly, Jo A., Lamond, Angus I., Matera, A. Gregory, Raimer, Amanda C., Schmidt, Casey A., Ten Have, Sara, Wagner, Eric J.   +9 more
core   +3 more sources

Fine‐Tuned Regulation of mRNA Translation and Transport by STAU2 Condensate Facilitates Neuronal Development and Plasticity

Advanced Science, EarlyView.
STAU2 undergoes phase separation to form dynamic condensates that package target mRNAs and deliver them to the distal ends of growing neuronal dendrites. STAU2 condensates stabilize embedded mRNAs and repress their translation. Synaptic activity bidirectionally remodels STAU2 condensates, coordinating local translation of STAU2‐associated mRNAs ...
Shijing Huang, Yuanyuan Chu, Ruiqian Zhao, Siyu Li, Yu Feng, Hongdan Zheng, Yunli Xie, Tong Wang, Wenyu Wen   +8 more
wiley   +1 more source

Alteration of 28S rRNA 2′-O-methylation by etoposide correlates with decreased SMN phosphorylation and reduced Drosha levels

Biology Open, 2019
The most common types of modification in human rRNA are pseudouridylation and 2′-O ribose methylation. These modifications are performed by small nucleolar ribonucleoproteins (snoRNPs) which contain a guide RNA (snoRNA) that base pairs at specific sites ...
Marilyn F. Burke, Douglas M. McLaurin, Madelyn K. Logan, Michael D. Hebert   +3 more
doaj   +1 more source

Directed Evolution Improves the Catalytic Efficiency of APEX2‐Mediated Proximity‐Dependent RNA Labeling

Advanced Science, EarlyView.
ABSTRACT Engineered ascorbate peroxidase APEX2 has been widely used for spatially restricted profiling of subcellular biomolecules, but its catalytic efficiency toward newly developed probes such as biotin‐aniline (Btn‐An) remains suboptimal. To overcome this limitation, we performed yeast surface display‐based directed evolution to enhance APEX2 ...
Gang Wang, Yi Li, Peiyuan Meng, Peng Zou
wiley   +1 more source

An unbiased genetic screen reveals the polygenic nature of the influenza virus anti-interferon response. [PDF]

, 2014
Influenza A viruses counteract the cellular innate immune response at several steps, including blocking RIG I-dependent activation of interferon (IFN) transcription, interferon (IFN)-dependent upregulation of IFN-stimulated genes (ISGs), and the activity
Asensio, VJ, Bengoechea, JA, Fernández, Y, Killip, MJ, Oliveros, JC, Ortín, J, Pérez-Cidoncha, M, Randall, RE   +7 more
core   +2 more sources

The Polymers of Life: Exploring Cellular Function Through Polymer Concepts

Advanced Science, EarlyView.
Biomolecular phase separation reveals that a hidden layer of cellular organization is governed by the principles of polymer science. This review bridges polymer physics and cell biology, offering a primer on fundamental concepts, proposing a framework for interrogating cellular function, and synthesizing biophysical methods for decoding macromolecular ...
Mark Chen, Ashutosh Chilkoti
wiley   +1 more source

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Frontiers in Molecular Biosciences, 2017
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein. SMN is part of a multiprotein complex that also includes Gemins 2–8 and Unrip. The SMN-Gemins complex cooperates with
Maia Lanfranco, Maia Lanfranco, Maia Lanfranco, Neville Vassallo, Neville Vassallo, Ruben J. Cauchi, Ruben J. Cauchi   +6 more
doaj   +1 more source

Nuclear DDX3 expression predicts poor outcome in colorectal and breast cancer [PDF]

, 2017
Purpose: DEAD box protein 3 (DDX3) is an RNA helicase with oncogenic properties that shuttles between the cytoplasm and nucleus. The majority of DDX3 is found in the cytoplasm, but a subset of tumors has distinct nuclear DDX3 localization of yet unknown ...
Bol, Guus M., Buerger, Horst, Heerman van Voss, Marise R., Meeldijk, Jan, Offerhaus, G. Johan, Patel, Arvind H., Raman, Ana, Raman, Venu, van der Wall, Elsken, van Diest, Paul J., Vesuna, Farhad   +10 more
core   +2 more sources

Scalable Engineering of Bio‐Manufactured Extracellular Vesicles for Selective Delivery in Ovarian Cancer Patient‐Derived Models

Advanced Science, EarlyView.
Engineered extracellular vesicles displaying Ephrin‐B2 selectively target Ephrin‐B4–expressing ovarian cancer cells, enabling precise delivery in patient‐derived models. This scalable bio‐manufacturing platform reveals a versatile strategy to exploit Ephrin signaling for highly specific therapeutic payload delivery and motivates exploration of tailored
Nihar Godbole, Andrew Lai, Alexander Quinn, Marianne Gillard, Dominic Guanzon, Katherin Scholz‐Romero, Alexis Salas‐Burgos, Bastián Lillo Dapremont, Rohan Lourie, Naven Chetty, Richard Lobb, Kate Beecher, Amy E. McCart Reed, Kaltin Ferguson, Biao Sun, Yaowu He, John D. Hooper, Carlos Salomon   +17 more
wiley   +1 more source