Results 91 to 100 of about 15,101 (190)

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Translational Neurodegeneration, 2019
Background Although many causative genes of hereditary spastic paraplegia (HSP) have been uncovered in recent years, there are still approximately 50% of HSP patients without genetically diagnosis, especially in autosomal recessive (AR) HSP patients ...
Qiao Wei, Hai-Lin Dong, Li-Ying Pan, Cong-Xin Chen, Yang-Tian Yan, Rou-Min Wang, Hong-Fu Li, Zhi-Jun Liu, Qing-Qing Tao, Zhi-Ying Wu   +9 more
doaj   +1 more source

High-resolution QTL mapping for grain appearance traits and co-localization of chalkiness-associated differentially expressed candidate genes in rice [PDF]

, 2016
Table S4. Annotated function of differentially expressed genes identified between parents.
Hui Wang, Jiyong Zou, Likai Chen, Liping Wang, Siping Chen, Tao Guo, Weiwei Gao, Yongzhu Liu, Zhiqiang Chen   +8 more
core   +4 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation

Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa, Malte Kornhuber, Dominic B. Fee   +2 more
wiley   +1 more source

Chronic Psychosocial Stress in Mice Is Associated With Increased Acid Sphingomyelinase Activity in Liver and Serum and With Hepatic C16:0-Ceramide Accumulation

Frontiers in Psychiatry, 2018
Chronic psychosocial stress adversely affects human morbidity and is a risk factor for inflammatory disorders, liver diseases, obesity, metabolic syndrome, and major depressive disorder (MDD).
Martin Reichel, Martin Reichel, Cosima Rhein, Lena M. Hofmann, Juliana Monti, Lukasz Japtok, Dominik Langgartner, Andrea M. Füchsl, Andrea M. Füchsl, Burkhard Kleuser, Erich Gulbins, Claus Hellerbrand, Stefan O. Reber, Johannes Kornhuber   +13 more
doaj   +1 more source

Constant-Size Structure-Preserving Signatures: Generic Constructions and Simple Assumptions [PDF]

, 2016
This paper presents efficient structure-preserving signature schemes based on simple assumptions such as decisional linear. We first give two general frameworks for constructing fully secure signature schemes from weaker building blocks such as ...
Bernardo David, C Dwork, D Dolev, J Chen, J Groth, M Abe, Markulf Kohlweiss, Masayuki Abe, Melissa Chase, Miyako Ohkubo, Ryo Nishimaki, S Even, S Goldwasser, SD Galbraith, Y Lindell   +14 more
core   +1 more source

A β‐Glucosyl Sterol Probe for in situ Fluorescent Labelling in Neuronal Cells to Investigate Neurodegenerative Diseases

Chemistry – A European Journal, Volume 30, Issue 41, July 19, 2024.
Aiming at tackling neurodegenerative diseases, the potential effect of β‐glucosyl sterol on neuronal cells is investigated by means of fluorescent labelling of a synthetic derivative. Marked differences in neuron accumulation, metabolism, and impact on the lysosomes with respect to the un‐glycosylated cholesterol derivative were observed.
Giuseppe Borsato, Francesco Carnio, Sara Lunardon, Mattia Moletta, Giulio Pavan, Francesca Terrin, Alessandro Scarso, Nicoletta Plotegher, Fabrizio Fabris   +8 more
wiley   +1 more source

Phase 1 Healthy Volunteer Study of AL01211, an Oral, Non‐brain Penetrant Glucosylceramide Synthase Inhibitor, to Treat Fabry Disease and Type 1 Gaucher Disease

Clinical Pharmacology in Drug Development, Volume 13, Issue 6, Page 696-709, June 2024.
Abstract Glycosphingolipid (GSL) storage diseases are caused by deficiencies in the enzymes that metabolize different GSLs in the lysosome. Glucosylceramide synthase (GCS) inhibitors reduce GSL production and have potential to treat multiple GSL storage diseases.
Michael Babcock, Jianhong Zheng, Jessica Gail Shurr, Li Li, Bing Wang, Pedro Huertas, Philip John Ryan, Yuqiao Shen, Marvin Garovoy   +8 more
wiley   +1 more source

dataset related to article: "Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype"

, 2021
Stefania Magri, Daniela Di Bella, Elisa Sarto, Franco Taroni   +3 more
openalex   +3 more sources

Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease [PDF]

, 2007
Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP) is associated with germline mutations in the APC gene, which result in ...
Nikola A Bowden, Amanda Croft, Rodney J Scott   +2 more
core   +1 more source

A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease

Clinical Genetics, Volume 105, Issue 4, Page 430-433, April 2024.
We report a mother with Huntington's disease (HD) associated with Motor Neuron Disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene. Subjects showing both ALS and HD signs and carrying HTT pathogenic expansions in two generations of the same kindred have never been reported ...
Antonio Canosa, Sara Cabras, Francesca Di Pede, Umberto Manera, Rosario Vasta, Cristina Moglia, Andrea Calvo, Salvatore Gallone, Adriano Chiò   +8 more
wiley   +1 more source