Results 161 to 170 of about 17,753 (213)

ATL2 Recruits TRAK1 to Promote Mitochondrial Transport at ER–Mitochondria Contact Sites

open access: yesAdvanced Science, EarlyView.
ABSTRACT Mitochondrial transport and distribution are crucial for cellular homeostasis, yet whether and how they are regulated by endoplasmic reticulum (ER)–mitochondria contact sites remains unclear. Here, we demonstrate that the ER protein atlastin‐2 (ATL2) orchestrates mitochondrial transport and distribution by promoting assembly of the transport ...
Yiru Cheng   +9 more
wiley   +1 more source

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

open access: yesAngewandte 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   +5 more
wiley   +2 more sources

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

open access: yesAmerican 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   +25 more
wiley   +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

open access: yesAmerican 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   +12 more
wiley   +1 more source

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

open access: yesAmerican 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

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

open access: yesAnimal 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   +3 more
wiley   +1 more source

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

open access: yesAnimal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu   +8 more
wiley   +1 more source

Comparative Analysis of Salmonella typhimurium‐Induced Transcriptomic Changes in the Spleen of Beijing‐You Chickens and Guang Ming Broilers

open access: yesAnimal Research and One Health, EarlyView.
This study analyzed the spleen transcriptomes of different chicken breeds, identified key differentially expressed genes (EGR1, FOS, and DUSP1) that regulate resistance to Salmonella infection, and elucidated the underlying regulatory mechanisms, thereby providing new targets for disease‐resistant breeding in poultry.
Zixuan Wang   +8 more
wiley   +1 more source

Identifying Systemic Lupus Erythematosus From Serum Proteomic Profiles Using Machine Learning and Genetic Risk Stratification

open access: yesArthritis &Rheumatology, EarlyView.
Objective Proteome‐wide risk models for lupus remain underexplored. We developed classification models to identify lupus from serum proteomic profiles. Methods Patients with lupus and individuals with other autoimmune diseases in the UK Biobank were included.
Mehmet Hocaoǧlu   +2 more
wiley   +1 more source

Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy

open access: yesBMEMat, EarlyView.
Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu   +5 more
wiley   +1 more source

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