Results 41 to 50 of about 25,996 (221)

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy

Disease Models & Mechanisms, 2021
Mislocalization of the TAR DNA-binding protein 43 (TDP-43; encoded by TARDBP) from the nucleus to the cytoplasm is a common feature of neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD ...
Rachel Atkinson, Jacqueline Leung, James Bender, Matthew Kirkcaldie, James Vickers, Anna King   +5 more
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

DNAJC9 prevents CENP-A mislocalization and chromosomal instability by maintaining the fidelity of histone supply chains

The EMBO Journal
The centromeric histone H3 variant CENP-A is overexpressed in many cancers. The mislocalization of CENP-A to noncentromeric regions contributes to chromosomal instability (CIN), a hallmark of cancer.
Vinutha Balachandra, Roshan L Shrestha, Colin M Hammond, Shinjen Lin, Ivo A Hendriks, Subhash Chandra Sethi, Lu Chen, Samantha Sevilla, Natasha J Caplen, Raj Chari, Tatiana S Karpova, Katherine McKinnon, Matthew AM Todd, Vishal Koparde, Ken Chih-Chien Cheng, Michael L Nielsen, Anja Groth, Munira A Basrai   +17 more
doaj   +1 more source

The role of adiponectin-AMPK axis in TDP-43 mislocalization and disease severity in ALS

Neurobiology of Disease
Hypermetabolism is a prominent characteristic of ALS patients. Aberrant activation of AMPK, an energy sensor regulated by adiponectin, is known to cause TDP-43 mislocalization, an early event in ALS pathogenesis.
Yu-Ju Liu, Chia-Wei Lee, Yi-Chu Liao, Joseph Jen-Tse Huang, Hung-Chih Kuo, Kang-Yang Jih, Yi-Chung Lee, Yijuang Chern   +7 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy

Cells, 2018
LMNA linked-Emery-Dreifuss muscular dystrophy (EDMD2) is a rare disease characterized by muscle weakness, muscle wasting, and cardiomyopathy with conduction defects.
Elisabetta Mattioli, Marta Columbaro, Mohammed Hakim Jafferali, Elisa Schena, Einar Hallberg, Giovanna Lattanzi   +5 more
doaj   +1 more source

Keratin 76 is required for tight junction function and maintenance of the skin barrier. [PDF]

PLoS Genetics, 2014
Keratins are cytoskeletal intermediate filament proteins that are increasingly being recognised for their diverse cellular functions. Here we report the consequences of germ line inactivation of Keratin 76 (Krt76) in mice.
Tia DiTommaso, Denny L Cottle, Helen B Pearson, Holger Schlüter, Pritinder Kaur, Patrick O Humbert, Ian M Smyth   +6 more
doaj   +1 more source

LC3B Mediated SETDB1‐Accounted Alcoholic Steatohepatitis via Lipidation‐Dependent LAP and Lipidation‐Independent Nuclear Stabilization

Advanced Science, EarlyView.
SETDB1 is progressively downregulated in ALD, correlating with disease severity. SETDB1 deficiency impairs LAP by disrupting Rubicon membrane localization, leading to defective lipid droplet clearance. Concurrently, loss of SETDB1 reduces nuclear LC3B, causing R‐loop accumulation and cGAS‐STING‐driven inflammation. Lipidated LC3B mediates LAP‐dependent
Yi Zhang, Tan Wei, Jiahang Wu, Chuixu Lin, Dongbo Zhu, Yanhui Li, Shuting Shi, Shishun Huang, Leiming Jiang, Hongzhi Wang, Meiqi Song, Pengfei Gao, Xu Wu, Mingjian Fan, Chaofeng Wei, Qian Wang, Lihui Qu, Zhigang Wang   +17 more
wiley   +1 more source

Mislocalization of peripheral targets during fixation

Vision Research, 2001
To investigate the effect of the visual stimulus configuration on localization when oculomotor performance is excluded, we evaluated the errors made when subjects compare the horizontal location of two sequentially presented peripheral targets while looking at a visual or memorized fixation spot.
Eggert, T, Ditterich, J, Straube, A
openaire   +2 more sources