Results 231 to 240 of about 62,421 (311)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Multicomponent Stapling of Glucagon‐Like Peptide‐1 Enables Receptor‐Guided PROTAC Delivery

Angewandte Chemie, EarlyView.
We report a stapled glucagon‐like peptide‐1 (GLP‐1) analogue created via multicomponent tryptophan‐mediated Petasis reaction (TMPR). This strategy yields a stabilised peptide with superior helicity and improved potency. Conjugation to a bromodomain‐containing protein 4 (BRD4) degrader creates the first GLP‐1‐guided targeted protein degrader (PROTAC ...
Jan L. Venne, Sona Krajcovicova, Graeme Davies, Hannah Bolt, Jefferson Revell, David R. Spring   +5 more
wiley   +2 more sources

Deubiquitinase YOD1 Inhibition Suppresses DEX- and Denervation-Induced Muscle Atrophy Through MAFbx Destabilization. [PDF]

J Cachexia Sarcopenia Muscle
Chae J, Woo SM, Seo SU, Yook S, Cho HJ, Lee JY, Min KJ, Park J, Ryu D, Kwon TK.   +9 more
europepmc   +1 more source

Bioinformatics analysis identifies several intrinsically disordered human E3 ubiquitin-protein ligases. [PDF]

PeerJ, 2016
Boomsma W, Nielsen SV, Lindorff-Larsen K, Hartmann-Petersen R, Ellgaard L.   +4 more
europepmc   +1 more source

E3 Ubiquitin-Protein Ligase TRIM33 [PDF]

, 2020
openaire   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

A special issue of Essays in Biochemistry on proteasome and protein degradation. [PDF]

Essays Biochem
Sahu I, Glickman MH.
europepmc   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

Animal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu, Tingting Liu, Xiangshu Cheng, Jianshe Wei   +3 more
wiley   +1 more source

Equine arteritis virus Nsp10 promotes MAVS proteasomal degradation via E3 ligases Smurf1/MARCH5. [PDF]

J Virol
Zhou B, Chen K, Liang H, Qi T, Guo X, Wen Y-J, Du C, Wang X.   +7 more
europepmc   +1 more source

E3 Ubiquitin-Protein Ligase COP1 [PDF]

, 2020
openaire   +1 more source