Results 41 to 50 of about 25,182 (194)

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

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +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

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

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 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

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

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

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