Results 51 to 60 of about 4,126 (198)

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel. [PDF]

Arthritis Rheumatol
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Mekinian A, Georgin-Lavialle S, Ferrada MA, Savic S, Koster MJ, Kosmider O, Comont T, Heiblig M, Arostegui JI, Bosco A, Bourguiba R, Calvo KR, Cargo C, Cattaneo C, Chasset F, Coelho H, Campochiaro C, Crisafulli F, Ducharme-Benard S, Faria R, Franceschini F, Frassi M, Groarke EM, Gurnari C, Hakobyan Y, Jamilloux Y, Jurcut C, Kirino Y, Kulasekararaj A, Kunimoto H, Madigan LM, Mann HF, Marvisi C, Milchert M, Morais S, Sockel K, Muratore F, Nakajima H, Patnaik MM, Regadas L, Robin M, Rutgers A, Salvarani C, Sammel AM, Seebach J, Sujobert P, Tomelleri A, Urbanski G, Vandergheynst F, Vieira R, Viswanatha DS, Więsik-Szewczyk E, Diral E, Terrier B, Patel BA, Fenaux P, Grayson PC, Beck DB, International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases.   +60 more
europepmc   +2 more sources

Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation [PDF]

, 2018
The E3 ligase parkin ubiquitinates outer mitochondrial membrane proteins during oxidative stress and is linked to early-onset Parkinson’s disease. Parkin is autoinhibited but is activated by the kinase PINK1 that phosphorylates ubiquitin leading to ...
Aguirre, Jacob D., Barber, Kathryn R., Chaugule, Viduth K., Condos, Tara E.C., Dunkerley, Karen M., Freeman, E Aisha, Konermann, Lars, Shaw, Gary S., Walden, Helen, Xiao, Yiming   +9 more
core   +1 more source

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Molecular Genetics & Genomic Medicine, 2021
Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 
Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang   +3 more
doaj   +1 more source

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

Cell Reports Medicine, 2023
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. To elucidate VEXAS pathophysiology, we performed transcriptome sequencing of single bone marrow mononuclear cells and hematopoietic stem ...
Zhijie Wu, Shouguo Gao, Qingyan Gao, Bhavisha A. Patel, Emma M. Groarke, Xingmin Feng, Ash Lee Manley, Haoran Li, Daniela Ospina Cardona, Sachiko Kajigaya, Lemlem Alemu, Diego Quinones Raffo, Amanda K. Ombrello, Marcela A. Ferrada, Peter C. Grayson, Katherine R. Calvo, Daniel L. Kastner, David B. Beck, Neal S. Young   +18 more
openaire   +2 more sources

Genomic Analysis of Drosophila Neuronal Remodeling: A Role for the RNA-Binding Protein Boule as a Negative Regulator of Axon Pruning [PDF]

, 2008
Drosophila mushroom body (MB) {gamma} neurons undergo axon pruning during metamorphosis through a process of localized degeneration of specific axon branches.
Hoopfer, Eric D., Luo, Liqun, Penton, Andrea, Watts, Ryan J.   +3 more
core   +1 more source

Phosphatase and tensin homologue: a therapeutic target for SMA [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the most common juvenile neurodegenerative diseases, which can be associated with child mortality. SMA is caused by a mutation of ubiquitously expressed gene, Survival Motor Neuron1 (SMN1), leading to reduced SMN ...
AH Burghes, AK Bevan, AS Arnold, B Trulzsch, C Carissimi, C Simone, CJ DiDonato, CL Lorson, CR Heier, D Buhler, D Little, D Sareen, DJ Freeman, DJ Yang, E Hajduch, ER Hollis 2nd, G Battaglia, G Hamilton, H Liu, H Rindt, HL Zhang, HM Hsieh-Li, HR Fuller, I Tein, J Branchu, J Gu, J Pearn, J Peltier, J Ramser, J Yong, JC Chang, JH Chung, JH Pearn, JO Lee, JR Bach, JV McGivern, K Bilguvar, K Liu, K Ning, KD Foust, KK Park, L Cartegni, L Schnell, L Schnell, L Van Den Bosch, L Viollet, LC Trotman, M Azzouz, M Bowerman, M Bowerman, MB Lachyankar, MM Martin, N Roy, ND Mazarakis, NK Genabai, RA Powis, S Jablonka, S Lefebvre, S Lefebvre, S Majumder, S Rudnik-Schoneborn, S Shanmugarajan, S Zhang, T Baughan, TM Wishart, TW Prior, U Felderhoff-Mueser, UR Monani, V Stambolic, W Rossoll, Y Zhang, Y Zhu, ZY Cheng   +72 more
core   +1 more source

The VEXAS Syndrome: Uncontrolled Inflammation and Macrocytic Anaemia in a 77-Year-Old Male Patient

European Journal of Case Reports in Internal Medicine, 2021
The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described X-linked autoinflammatory condition caused by a somatic mutation of the UBA1 gene and characterized by an evolving phenotype. This includes inflammatory
Andreas Himmelmann, Rolf Brücker
doaj   +1 more source

Sex chromosome-to-autosome transposition events counter Y-chromosome gene loss in mammals [PDF]

, 2018
Background: Although the mammalian X and Y chromosomes evolved from a single pair of autosomes, they are highly differentiated: the Y chromosome is dramatically smaller than the X and has lost most of its genes.
Hughes, Jennifer F, Koutseva, Natalia, Page, David C, Pyntikova, Tatyana, Skaletsky, Helen   +4 more
core   +1 more source

A genetic study based on PCNA-ubiquitin fusions reveals no requirement for PCNA polyubiquitylation in DNA damage tolerance [PDF]

, 2017
Post-translational modifications of Proliferating Cell Nuclear Antigen (PCNA) play a key role in regulating the bypass of DNA lesions during DNA replication. PCNA can be monoubiquitylated at lysine 164 by the RAD6-RAD18 ubiquitin ligase complex.
Gervai, Judit Zsuzsanna, Gálicza, Judit, Szeltner, Zoltán, Szüts, Dávid, Zámborszky, Judit   +4 more
core   +1 more source

VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia

Case Reports in Hematology, 2023
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1.
Janne Austestad, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, Håkon Reikvam   +5 more
doaj   +1 more source