Results 81 to 90 of about 91,518 (258)

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

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing

STAR Protocols
Mutations at RNA splicing sites or regulatory elements can alter splicing efficiency or patterns, affecting RNA functionality and tissue-specific expression. Here, we present a protocol to study the impact of mutations near splicing sites on precursor mRNA (pre-mRNA) splicing.
Daoyuan Xie, Qiongling Peng, Yu Tian, Yangyun Han, Guanting Lu   +4 more
openaire   +2 more sources

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

A novel A–>G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency.

Journal of Lipid Research, 1996
We have identified the underlying molecular defect in a patient with hepatic lipase (HL) deficiency presenting with hypertriglyceridemia and premature cardiovascular disease.
K Brand, K A Dugi, J D Brunzell, D N Nevin, S Santamarina-Fojo   +4 more
doaj   +1 more source

Longitudinal Morphomolecular Monitoring of Head and Neck Carcinogenesis

Advanced Science, EarlyView.
A miniaturized endoscopic probe that integrates Raman spectroscopy and optical coherence tomography, enabling simultaneous molecular and structural imaging of living tissue, was developed. Applied longitudinally in a mouse model of head and neck cancer, the system tracks disease progression from precancerous lesions to invasive cancer.
Jianrong Qiu, Priyanka G. Bhosale, Vishal Kumar, Jeyrroy Gabriel, Shiyue Liu, Ciro Chiappini, Richard J. Cook, Mads S. Bergholt   +7 more
wiley   +1 more source

First detection of the splice donor site IVS-I-2 (T-->B) beta-thalassemia mutation in a Chinese patient

Haematologica, 2005
We present the first description of a Chinese family with a rare b-thalassemia mutation commonly observed in black Americans. This mutation is a splice donor site mutation, and is associated with a phenotype of beta0-thalassemia.
C Liao, J Li, Y Huang, D Li
doaj  

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source