Results 61 to 70 of about 32,684 (231)

FUS ALS neurons activate major stress pathways and reduce translation as an early protective mechanism against neurodegeneration

Cell Reports, 2023
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder causing progressive loss of motor neurons. Mutations in Fused in sarcoma (FUS) leading to its cytoplasmic mislocalization cause a subset of ALS.
Barbara Szewczyk, René Günther, Julia Japtok, Moritz J. Frech, Marcel Naumann, Hyun O. Lee, Andreas Hermann   +6 more
doaj   +1 more source

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

Neurology: Genetics, 2020
Objective To better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by ELOVL4 mutations and to demonstrate the presence of ELOVL4 cellular localization and distribution abnormalities in skin ...
M. Beaudin, L. Sellami, Christian Martel, L. Touzel-Deschênes, Gabrielle R. Houle, L. Martineau, Kevin Lacroix, Andréane Lavallée, N. Chrestian, G. Rouleau, F. Gros-Louis, R. Laforce, N. Dupré   +12 more
semanticscholar   +1 more source

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

LOX upregulates FAK phosphorylation to promote metastasis in osteosarcoma

Genes and Diseases, 2023
Osteosarcoma is a malignant bone tumor that commonly occurs in the pediatric population. Despite the use of chemotherapy and surgery, metastasis remains to be the leading cause of death in patients with osteosarcoma.
Xiang Chen, Margaret Clement, M. John Hicks, Poonam Sarkar, M. Waleed Gaber, Tsz-Kwong Man   +5 more
doaj   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +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

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

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

Relative mislocalization of successively presented stimuli

Vision Research, 2008
When observers were asked to localize the peripheral position of a briefly presented target with respect to a previously presented comparison stimulus, they tended to judge the target as being more towards the fovea than the comparison stimulus. Three experiments revealed that the mislocalization only emerged when the comparison stimulus and the target
Bocianski, Diana, Müsseler, Jochen, Erlhagen, Wolfram   +2 more
openaire   +3 more sources