Results 201 to 210 of about 258,200 (289)

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

The Polybrominated Diphenyl Ether Bromoxib Disrupts Nuclear Import and Export by Affecting Nucleoporins of the Nuclear Pore Complex. [PDF]

Mar Drugs
Krings KS, Ritchie A, Schmitt L, Hatzfeld J, Totzke G, Lenz T, Mendiburo MJ, Stork B, Teusch N, Proksch P, Stühler K, Müller L, Wesselborg S.   +12 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS. [PDF]

Acta Neuropathol Commun
Keeley O, Mendoza E, Menon D, Coyne AN.
europepmc   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Detecting Nuclear Pore Complex assembly in living cells

Veldsink AC, Fischer JS, Terpstra HM, Mannino P, de Lange EM, Hell S, van Benthem KJ, Saba LJ, Steen A, Vlijm R, Heinemann M, Weis K, Lusk CP, Veenhoff LM.   +13 more
europepmc   +1 more source

Docking a flexible basket onto the core of the nuclear pore complex. [PDF]

Nat Cell Biol
Stankunas E, Köhler A.
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

TorsinA is essential for neuronal nuclear pore complex localization and maturation. [PDF]

Nat Cell Biol
Kim S, Phan S, Tran HT, Shaw TR, Shahmoradian SH, Ellisman MH, Veatch SL, Barmada SJ, Pappas SS, Dauer WT.   +9 more
europepmc   +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