Results 21 to 30 of about 32,684 (231)

Blocking K-Ras Interaction With the Plasma Membrane Is a Tractable Therapeutic Approach to Inhibit Oncogenic K-Ras Activity

Frontiers in Molecular Biosciences, 2021
Ras proteins are membrane-bound small GTPases that promote cell proliferation, differentiation, and apoptosis. Consistent with this key regulatory role, activating mutations of Ras are present in ∼19% of new cancer cases in the United States per year.
Karen M. Henkels, Kristen M. Rehl, Kwang-jin Cho   +2 more
doaj   +1 more source

Potential Therapeutic Role of HDAC Inhibitors in FUS-ALS

Frontiers in Molecular Neuroscience, 2021
Mutations in the FUS gene cause amyotrophic lateral sclerosis (ALS-FUS). However, the exact pathogenic mechanism of mutant fused in sarcoma (FUS) protein is not completely understood.
Clara Tejido, Donya Pakravan, Donya Pakravan, Ludo Van Den Bosch, Ludo Van Den Bosch   +4 more
doaj   +1 more source

Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3

Nature Communications, 2023
Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich domain (RS-domain).
Julia Kornienko, Marta Rodríguez-Martínez, Kai Fenzl, Florian Hinze, D. Schraivogel, Markus Grosch, Brigit Tunaj, Dominik Lindenhofer, L. Schraft, M. Kueblbeck, Eric D. Smith, Chad Y Mao, E. Brown, Anjali T. Owens, A. Saguner, Benjamin Meder, V. Parikh, M. Gotthardt, Lars M. Steinmetz   +18 more
semanticscholar   +1 more source

P23H rhodopsin accumulation causes transient disruptions to synaptic protein levels in rod photoreceptors in a model of retinitis pigmentosa [PDF]

Disease Models & Mechanisms
Samantha L. Thompson, Sophie M. Crowder, Maryam Hekmatara, Emily R. Sechrest, Wen-Tao Deng, Michael A. Robichaux   +5 more
doaj   +2 more sources

Pervasive mislocalization of pathogenic coding variants underlying human disorders

bioRxiv, 2023
Widespread sequencing has yielded thousands of missense variants predicted or confirmed as disease-causing. This creates a new bottleneck: determining the functional impact of each variant – largely a painstaking, customized process undertaken one or a ...
Jessica Lacoste, Marzieh Haghighi, Shahan Haider, Zhen-Yuan Lin, Dmitri Segal, Chloe Reno, Wesley Wei Qian, Xueting Xiong, Hamdah Shafqat-Abbasi, Pearl V. Ryder, Rebecca Senft, B. Cimini, Frederick P. Roth, M. Calderwood, David E. Hill, Marc Vidal, S. Yi, Nidhi Sahni, Jian Peng, A. Gingras, Shantanu Singh, Anne E Carpenter, Mikko Taipale   +22 more
semanticscholar   +1 more source

The histone H3/H4 chaperone CHAF1B prevents the mislocalization of CENP-A for chromosomal stability

Journal of Cell Science, 2023
Restricting the localization of the evolutionarily conserved centromeric histone H3 variant CENP-A to centromeres prevents chromosomal instability (CIN).
Roshan L. Shrestha, Vinutha Balachandra, Jee Hun Kim, Austin Rossi, Pranathi Vadlamani, S. C. Sethi, L. Ozbun, Shinjen Lin, Ken Chin-Chien Cheng, R. Chari, T. Karpova, Gianluca Pegoraro, D. Foltz, N. Caplen, M. Basrai   +14 more
semanticscholar   +1 more source

The effect of aquaporin-4 mis-localization on Aβ deposition in mice

Neurobiology of Disease, 2023
The reduced clearance of amyloid-β (Aβ) is thought to contribute to the development of the pathology associated with Alzheimer's disease (AD), which is characterized by the deposition of Aβ plaques.
Taylor J. Pedersen, Samantha A. Keil, Warren Han, Marie X. Wang, Jeffrey J. Iliff   +4 more
doaj   +1 more source

Mislocalization of protein kinase A drives pathology in Cushing’s syndrome

Cell Reports, 2022
SUMMARY Mutations in the catalytic subunit of protein kinase A (PKAc) drive the stress hormone disorder adrenal Cushing’s syndrome. We define mechanisms of action for the PKAc-L205R and W196R variants. Proximity proteomic techniques demonstrate that both
Mitchell H. Omar, D. Byrne, Kiana N. Jones, T. Lakey, Kerrie B. Collins, Kyung-Soon Lee, Leonard A. Daly, K. Forbush, Ho-Tak Lau, Martin G. Golkowski, G. McKnight, D. Breault, A. LEFRANCOIS-MARTINEZ, Antoine Martinez, C. Eyers, G. Baird, Shao-En Ong, F. Smith, P. Eyers, John D. Scott   +19 more
semanticscholar   +1 more source

Tuning curves vs. population responses, and perceptual consequences of receptive-field remapping

Frontiers in Computational Neuroscience, 2023
Sensory processing is often studied by examining how a given neuron responds to a parameterized set of stimuli (tuning curve) or how a given stimulus evokes responses from a parameterized set of neurons (population response).
Ning Qian, Ning Qian, Michael E. Goldberg, Michael E. Goldberg, Mingsha Zhang   +4 more
doaj   +1 more source

Inhibition of CK2 mitigates Alzheimer’s tau pathology by preventing NR2B synaptic mislocalization

Acta Neuropathologica Communications, 2022
Alzheimer’s disease (AD) is a neurodegenerative disorder that exhibits pathological changes in both tau and synaptic function. AD patients display increases in hyperphosphorylated tau and synaptic activity.
Courtney A. Marshall, Jennifer D. McBride, Lakshmi Changolkar, Dawn M. Riddle, J. Trojanowski, V. Lee   +5 more
semanticscholar   +1 more source