Results 41 to 50 of about 654 (133)

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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Understanding exosomes in regenerative dentistry

Periodontology 2000, EarlyView.
Abstract Background Regenerative dentistry is shifting from cell‐based strategies to cell‐free biologics capable of orchestrating intricate tissue repair. Exosomes, nanosized extracellular vesicles carrying bioactive molecular payloads, have emerged as central modulators of intercellular communication.
Paras Ahmad, Anton Sculean, Richard J. Miron   +2 more
wiley   +1 more source

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...
Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium   +10 more
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

Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis [PDF]

, 2020
The neuronal ceroid lipofuscinoses (NCLs) are a family of monogenic life-limiting pediatric neurodegenerative disorders collectively known as Batten disease 1 . Although genetically heterogeneous 2 , NCLs share several clinical symptoms and pathological hallmarks
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Brenda Morant-Ferrando, Paula Alonso-Batan, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños   +21 more
openaire   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

Frontiers in Genetics, 2019
Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A ...
Xiao-Tun Ren, Xiao-Hui Wang, Chang-Hong Ding, Xiang Shen, Hao Zhang, Wei-Hua Zhang, Jiu-Wei Li, Chang-Hong Ren, Fang Fang   +8 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Comprehensive functional splicing analysis of non‐canonical CNGB3 variants using in vitro minigene splice assays

The Journal of Pathology, Volume 266, Issue 3, Page 322-336, July 2025.
Abstract Variants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley, Nicole Weisschuh, Susanne Kohl, Peggy Reuter   +3 more
wiley   +1 more source