Results 21 to 30 of about 493 (108)

Alphafold Predictions Provide Insights into the Structural Features of the Functional Oligomers of All Members of the KCTD Family. [PDF]

Int J Mol Sci, 2022
Oligomerization endows proteins with some key properties such as extra-stabilization, long-range allosteric regulation(s), and partnerships not accessible to their monomeric counterparts.
Esposito L, Balasco N, Vitagliano L.
europepmc   +2 more sources

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Journal of Inborn Errors of Metabolism and Screening, 2021
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration.
Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher   +9 more
doaj   +1 more source

Identification of Potentially Relevant Genes for Excessive Exercise-Induced Pathological Cardiac Hypertrophy in Zebrafish

Frontiers in Physiology, 2020
Exercise-induced cardiac remodeling has aroused public concern for some time, as sudden cardiac death is known to occur in athletes; however, little is known about the underlying mechanism of exercise-induced cardiac injury.
Zuoqiong Zhou, Lan Zheng, Changfa Tang, Zhanglin Chen, Runkang Zhu, Xiyang Peng, Xiushan Wu, Ping Zhu   +7 more
doaj   +1 more source

RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery

Neuropathology and Applied Neurobiology, Volume 49, Issue 6, December 2023., 2023
Peripheral blood RNA‐seq from 96 sporadic ALS cases and 48 controls were examined for diagnostic, prognostic and cohort stratification biomarkers. Biomarkers distinguishing patients with ALS from controls were identified including activation of ferroptosis and immune‐related pathways, and differential transcript usage.
Natalie Grima, Sidong Liu, Dean Southwood, Lyndal Henden, Andrew Smith, Albert Lee, Dominic B. Rowe, Susan D'Silva, Ian P. Blair, Kelly L. Williams   +9 more
wiley   +1 more source

ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Epileptic Disorders, Volume 25, Issue 5, Page 670-680, October 2023., 2023
Abstract Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME.
Jillian M. Cameron, Colin A. Ellis, Samuel F. Berkovic, for the ILAE Genetics Commission, the ILAE Genetic Literacy Task Force, Piero Perucca, J. Helen Cross, Holger Lerche, Alina I. Esterhuizen, Iscia Lopes‐Cendes, Meng‐Han Tsai, Daniel H. Lowenstein, Nigel C. K. Tan, Ingo Helbig, Heather C. Mefford, Andreas Brunklaus, Gaetan Lesca, Elizabeth Emma Palmer, Amy McTague, Faiza Fakhfakh, Norman Delanty, Daniel H. Lowenstein, Nigel C. K. Tan, Alina I. Esterhuizen   +23 more
wiley   +1 more source

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

Molecular Genetics & Genomic Medicine, 2020
Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues.
Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Popov, Ekaterina I. Surkova, Peter A. Shatalov, Alexander S. Rakitko, Valery V. Ilinsky   +15 more
doaj   +1 more source

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Recent insights into the networking of CLN genes and proteins in mammalian cells

Journal of Neurochemistry, Volume 165, Issue 5, Page 643-659, June 2023., 2023
This review provides a comprehensive summary of our understanding of how CLN genes and proteins are networked in mammalian cells. Mutations in CLN genes cause neuronal ceroid lipofuscinosis; a neurodegenerative disease that primarily affects children.
Robert J. Huber
wiley   +1 more source

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

Acta Epileptologica, 2020
Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical features and
Jing Zhang, Ying Yang, Xueyang Niu, Jiaoyang Chen, Wei Sun, Changhong Ding, Lifang Dai, Liping Zhang, Qi Zeng, Yi Chen, Xiaojuan Tian, Xiaoling Yang, Taoyun Ji, Zhixian Yang, Yanling Yang, Yuwu Jiang, Yuehua Zhang   +16 more
doaj   +1 more source

Biochemical interactions of the human epilepsy protein KCTD7 [PDF]

, 2021
Our lab showed that the Whi2 protein of yeast Saccharomyces cerevisiae is required in low amino acid conditions to suppress TORC1, the master regulator of cellular responses to nutrient availability. Whi2 requires the uncharacterized protein phosphatases
Niu, Qingwei
core