Results 151 to 160 of about 3,812 (167)

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Brain, 2018
Thomas Gillingwater, Ewout Jn Groen, James N Sleigh   +2 more
exaly  

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Neuromuscular Disorders, 2015
Maria Jędrzejowska, Anna Kostera-Pruszczyk   +1 more
exaly  

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype

Neuromuscular Disorders, 2020
Niamh Shaughnessy, Sally Ann Lynch, Bryan Lynch   +2 more
exaly  

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular Disorders, 2013
Nomazulu Dlamini, Simon Paine
exaly  

A comprehensive prognostic and immune infiltration analysis of UBA1 in pan‐cancer: A computational analysis and in vitro experiments

Journal of Cellular and Molecular Medicine
Can Chen, , Shenxian Qian
exaly  

Ubiquitin‐activating enzyme (UBA1) is required for sperm capacitation, acrosomal exocytosis and sperm–egg coat penetration during porcine fertilization

Journal of Developmental and Physical Disabilities, 2012
John Odhiambo, Pavla Postlerova, Peter Sutovsky   +2 more
exaly  

Three UBA1 clones for a unique VEXAS syndrome

Rheumatology
Louis Terriou, Benjamin Podvin, Claude Preudhomme   +2 more
exaly  

Ubiquitin-Activating Enzyme E1 (UBA1) as a Prognostic Biomarker and Therapeutic Target in Breast Cancer: Insights into Immune Infiltration and Functional Implications

International Journal of Molecular Sciences
Changshuai Zhou, Mingtao Feng, Li Liangdong   +2 more
exaly  

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome

Rheumatology
, Naomi Tsuchida, Masaki Itagane
exaly  

Macrophage-specific UBA1 knockout attenuates sepsis-induced liver dysfunction by regulating inflammatory responses via the BMAL1/CLOCK–REV-ERBα axis

International Immunopharmacology
Hui-Hua Li
exaly