Results 161 to 170 of about 49,812 (243)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 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

Evolution, composition and functions of cullin E3 ubiquitin ligases in trypanosomes. [PDF]

Sci Rep
Del Pino RC, Zoltner M, Butterfield ER, Field MC.   +3 more
europepmc   +1 more source

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

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

6-Shogaol Attenuates Doxorubicin-Induced Cardiac and Skeletal Muscle Atrophy by Inhibiting E3 Ubiquitin Ligases and Necroptosis. [PDF]

Phytother Res
Sun X, Wang Y, Yang Q, Xin B, Huang J, Guo C.   +5 more
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

The multifaceted roles of E3 ubiquitin ligases in osteoarthritis. [PDF]

Front Cell Dev Biol
Jin Z, Zhu Z, Chen J, Jing X, Tan J, Zeng J.   +5 more
europepmc   +1 more source

Crosstalk between the ribosome quality control-associated E3 ubiquitin ligases LTN1 and RNF10. [PDF]

FEBS Lett
Huang Y, Hashimoto S, Ito S, Kikuguchi C, Hoshi M, Yamaguchi K, Furukawa Y, Suzuki T, Inada T.   +8 more
europepmc   +1 more source

The Roles of E3 Ubiquitin Ligases in Cerebral Ischemia-Reperfusion Injury. [PDF]

Int J Mol Sci
Li M, Yu X, Liu Q, Fang Z, Wang H.
europepmc   +1 more source