Results 101 to 110 of about 18,272 (219)

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

open access: yesFEBS Open Bio, Volume 16, Issue 8, Page 1563-1592, August 2026.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane   +11 more
wiley   +1 more source

A Plug‐and‐Play Platform for Customizing Multivalent Degraders and Degrader‐Drug Conjugates

open access: yesAdvanced Science, Volume 13, Issue 44, 7 August 2026.
Membrane proteins remain challenging targets for conventional TPD approaches. Here, the authors develop UPTAB, a modular platform leveraging ultrahigh‐affinity orthogonal Im/CL protein pairs for lysosomal degradation of membrane proteins. Mono‐targeted (Type‐I), dual‐targeted (Type‐II), and tri‐targeted (Type‐III) UPTABs enable simultaneous degradation
Mengqing Zhao   +7 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen   +9 more
wiley   +1 more source

BAFS at 50 [PDF]

open access: yesMedicine, Science and the Law, 2010
openaire   +1 more source

Beyond a Metabolite: Lactylation as a Pivotal Regulator of Colorectal Cancer Pathogenesis and Treatment Resistance

open access: yesJournal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
This review elucidates how lactylation, a novel histone modification driven by lactate, regulates colorectal cancer pathogenesis. We summarize its roles in tumor progression, metastasis, stemness, immunosuppression, and therapy resistance, and discusses the promising therapeutic strategies of targeting the lactylation pathway.
Shuilan Yao   +4 more
wiley   +1 more source

Loss of Rab8a‐Dependent Tethering of Lipid Droplets to Mitochondria Contributes to Hypoxia–Reoxygenation Injury

open access: yesMedComm, Volume 7, Issue 8, August 2026.
Rab8a‐dependent tethering of lipid droplets to mitochondria sustains fatty acid oxidation and cardiomyocyte metabolic flexibility under normoxia. During hypoxia/reoxygenation, Rab8a loss and PLIN5‐associated lipophagy uncouple lipid breakdown from mitochondrial utilization, driving lipotoxicity and cell death.
Jialing Tang   +6 more
wiley   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

open access: yesThe Journal of Pathology, Volume 269, Issue 4-5, Page 387-398, August 2026.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov   +6 more
wiley   +1 more source

An unattended image‐processing pipeline for on‐the‐fly quality assessment and 3D exploration in cryo‐EM

open access: yesActa Crystallographica Section D, Volume 82, Issue 8, Page 915-939, August 2026.
We present a fully automated, unattended cryo‐EM pipeline that serves as an on‐the‐fly diagnostic tool, enabling rapid data‐quality assessment and informed decision‐making to maximize data‐collection efficiency.Single‐particle analysis (SPA) by cryogenic electron microscopy (cryo‐EM) has become a cornerstone of structural biology; yet, the workflow ...
Daniel Marchán Torres   +14 more
wiley   +1 more source

Progerin Hinders Autophagy Flux at Its Final Stages in Hutchinson‐Gilford Progeria Syndrome Cells, Preventing Its Own Autophagic Degradation

open access: yesAging Cell, Volume 25, Issue 8, August 2026.
We demonstrated that progerin induces the formation of autophagosomes but impairs their maturation and subsequent fusion with lysosomes. Progerin impedes proper autophagy flux, thus preventing its own autophagic degradation. Selinexor treatment improved both autophagosome maturation and autophagosome‐lysosome fusion, which ultimately led to effective ...
Ian García‐Aguirre   +18 more
wiley   +1 more source

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