Results 161 to 170 of about 6,714 (194)

P456: Novel UBA1 variant associated with attenuated X-linked SMA phenotype

Genetics in Medicine Open
Sofia Jares Baglivo, Jenny Do, Erin Cooney   +2 more
openaire   +2 more sources

VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies. [PDF]

Int J Mol Sci
Corrao S, Moschetti M, Scibetta S, Calvo L, Giardina A, Cangemi I, Zizzo C, Colomba P, Duro G.   +8 more
europepmc   +1 more source

A cross-sectional survey on VEXAS syndrome: insights from a global expert panel. [PDF]

Clin Rheumatol
Ali SB, Gurnari C.
europepmc   +1 more source

Clinical features in VEXAS syndrome: a systematic review. [PDF]

Rheumatology (Oxford)
Al-Hakim A, Goldberg S, Gaillard S, Heiblig M, Beck DB, Savic S.   +5 more
europepmc   +1 more source

Identification of post-translational modification-related biomarkers in ischemic stroke using bioinformatics and machine learning. [PDF]

Sci Rep
Bian X, Fu H, Sun W, Wang N, Liu H, Han W.   +5 more
europepmc   +1 more source

Is immunotherapy safe and effective in patients with VEXAS syndrome? [PDF]

J Immunother Cancer
Marvisi C, Muratore F, Cusenza VY, Nicoli D, Farnetti E, Bonanno O, Spaggiari L, Banzi M, Longo C, Salvarani C.   +9 more
europepmc   +1 more source

A rare case of VEXAS syndrome. [PDF]

Rheumatol Adv Pract
Gupta K, El-Ghazali S, Kubba F.
europepmc   +1 more source

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration [PDF]

Trends in Molecular Medicine, 2015
Neurodegenerative diseases are a leading cause of disability and early death. A common feature of these conditions is disruption of protein homeostasis. Ubiquitin-like modifier activating enzyme 1 (UBA1), the E1 ubiquitin-activating enzyme, sits at the apex of the ubiquitin cascade and represents an important regulator of cellular protein homeostasis ...
Ewout J N Groen, Thomas Gillingwater
exaly   +3 more sources

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Three UBA1 clones for a unique VEXAS syndrome

Rheumatology, 2023
Dear Editor, The VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described autoinflammatory disease characterized by mutations in the E1 ubiquitin-activating enzyme encoded by the UBA1 gene [1]. Clinico-biological findings include haematological abnormalities, treatment-refractory inflammatory syndrome, skin ...
Podvin, Benjamin, Cleenewerck, Nathalie, Nibourel, Olivier, Marceau-Renaut, Alice, Roynard, Pauline, Preudhomme, Claude, Duployez, Nicolas, Terriou, Louis   +7 more
openaire   +2 more sources