Results 171 to 180 of about 274,715 (359)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Infectious Bursal Disease Virus Activates c-Src To Promote α4β1 Integrin-Dependent Viral Entry by Modulating the Downstream Akt-RhoA GTPase-Actin Rearrangement Cascade [PDF]

, 2016
Chengjin Ye, Xinpeng Han, Zhaoli Yu, Enli Zhang, Lijuan Wang, Hebin Liu   +5 more
openalex   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

ScreeningLegionellaeffectors for antiviral effects reveals Rab1 GTPase as a proviral factor coopted for tombusvirus replication [PDF]

, 2019
Jun-ichi Inaba, Kai Xu, Nikolay Kovalev, Harish N. Ramanathan, Craig R. Roy, Brett D. Lindenbach, Peter D. Nagy   +6 more
openalex   +1 more source

Regulation of TORC2 function and localization by Rab5 GTPases in Saccharomyces cerevisiae. [PDF]

, 2019
The evolutionarily conserved Target of Rapamycin (TOR) complex-2 (TORC2) is an essential regulator of plasma membrane homeostasis in budding yeast (Saccharomyces cerevisiae).
Locke, Melissa N, Thorner, Jeremy
core   +1 more source

GTPase [PDF]

, 2020
openaire   +1 more source

DLC1 suppresses distant dissemination of human hepatocellular carcinoma cells in nude mice through reduction of RhoA GTPase activity, actin cytoskeletal disruption and down-regulation of genes involved in metastasis

, 2008
Xiaoling Zhou, Drazen B. Zimonjic, Sang‐Won Park, Xu-Yu Yang, Marian E. Durkin, Nicholas C. Popescu   +5 more
openalex   +2 more sources

Antagonistic Cross-talk between Rac and Cdc42 GTPases Regulates Generation of Reactive Oxygen Species [PDF]

, 2004
Becky A. Diebold, Bruce Fowler, Justine Lu, Mary C. Dinauer, Gary Bokoch   +4 more
openalex   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Structure of a PACE protein: PAB0955, first member of new GTPase family [PDF]

, 2005
Stéphanie Gras, Belén Fernández, Valérie Chaumont, Philippe Carpentier, Jean Armengaud, Dominique Housset   +5 more
openalex   +1 more source