Results 231 to 240 of about 194,539 (300)

Correction: ABLIM1: a novel oncogenic E3 ligase in colorectal cancer. [PDF]

Front Oncol
Frontiers Production Office.
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

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Generalizable Strategies for the Synthesis of Cereblon‐Recruiting PROTAC Prodrugs

Angewandte Chemie, EarlyView.
Cereblon‐recruiting PROTACs remain challenging to derivatize for prodrug‐based delivery. In this study, three complementary conjugation strategies enabled the efficient synthesis of cleavable PROTAC prodrugs with tunable release kinetics that can be incorporated into a library of PEGylated constructs and bottlebrush prodrugs.
Aiden X. Wang, Bin Liu, Elise M. Ackerman, Yichen Xiang, Hung V.‐T. Nguyen, Yivan Jiang, Angela N. Koehler, Jeremiah A. Johnson   +7 more
wiley   +2 more sources

RING-type E3 ligase RhSAREL promotes flower senescence by differentially regulating two TMBIM family members, RhTMBIM1 and RhTMBIM7, in Rosa hybrida. [PDF]

Plant Physiol
Chen J, Zhou W, Zhao S, Su Y, Fan Y, Wang Y, Zhao J, Liu Y, Yu F, Zhang C.   +9 more
europepmc   +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

Beyond Simple Mimicry: Next‐Generation Geometric Architectures and Future Paradigms in Small‐Molecule and Macrocyclic Peptidomimetics

Angewandte Chemie, EarlyView.
Peptide‐to‐Small Molecule Paradigm: Peptidomimetics have evolved from simple mimicry toward drug‐like scaffolds supported by increasing clinical successes. This Perspective highlights the geometric design principles—linear repetition, convergent fusion, and cyclization—defining the next‐generation peptidomimetic architectures capable of targeting ...
Jesang Lee, Sumin Son, Jeong Yeon Yoo, Ji Hyae Lee, Meehyun Chun, Seung Bum Park   +5 more
wiley   +2 more sources

Author Correction: E3 ligase FBXW7 is critical for RIG-I stabilization during antiviral responses. [PDF]

Nat Commun
Song Y, Lai L, Chong Z, He J, Zhang Y, Xue Y, Xie Y, Chen S, Dong P, Chen L, Chen Z, Dai F, Wan X, Xiao P, Cao X, Liu Y, Wang Q.   +16 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

Hydrophobic Tag Degraders Overcome Endocrine-Resistant Breast Cancer by Recruiting HSP27-Mediated E3 Ligase Complex for ERα Proteasomal Degradation. [PDF]

Angew Chem Int Ed Engl
Xin L, Song Z, Cui Y, Wang C, Chen Y, Liu J, Min J, Hu Z, Xiao R, Liu X, Guo Z, Wang H, Hu Z, Huang J, Liang K, Dong C, Zhou HB.   +16 more
europepmc   +1 more source