Results 21 to 30 of about 474 (120)

Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids. [PDF]

Mol Genet Genomic Med, 2021
In this paper, we examined the phenotype of retinal organoids derived from a patient with non‐syndromic CLN3 disease. We showed that accumulation of subunit C of mitochondrial ATPase occurs in patient retinal cells and cardiomyocytes, and could be prevented by gene correction.
Zhang X, Zhang D, Thompson JA, Chen SC, Huang Z, Jennings L, McLaren TL, Lamey TM, De Roach JN, Chen FK, McLenachan S.   +10 more
europepmc   +2 more sources

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and the Eye [PDF]

Survey of Ophthalmology, 2009
Juvenile neuronal ceroid lipofuscinoses, or Batten disease, is the most common type of NCL in the United States and Europe. This devastating disorder presents with vision failure and progresses to include seizures, motor dysfunction, and dementia. Death usually occurs in the third decade, but some patients die before age twenty. Though the mechanism of
Sara, Bozorg, Denia, Ramirez-Montealegre, Mina, Chung, David A, Pearce   +3 more
openaire   +2 more sources

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

Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review

Movement Disorders Clinical Practice, Volume 10, Issue 1, Page 17-31, January 2023., 2023
Abstract Background With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis ...
Emma N.M.M. von Scheibler, Agnies M. van Eeghen, Tom J. de Koning, Mark L. Kuijf, Janneke R. Zinkstok, Annelieke R. Müller, Thérèse A.M.J. van Amelsvoort, Erik Boot   +7 more
wiley   +1 more source

The regulatory mechanism and therapeutic potential of transcription factor EB in neurodegenerative diseases

CNS Neuroscience &Therapeutics, Volume 29, Issue 1, Page 37-59, January 2023., 2023
Abnormal activation of TFEB leads to dysfunction of ALP pathway in neurodegenerative diseases. Growing evidence shows that overexpression of TFEB or TFEB‐targeted small molecules promotes the degradation of abnormal aggregation proteins and significantly improves the abnormal behavioral characteristics of animal models. This review mainly summarize the
Fengjuan Jiao, Bojie Zhou, Lingyan Meng
wiley   +1 more source

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach. [PDF]

Mol Genet Genomic Med
Exome sequencing (ES) data‐based read‐depth bioinformatic analysis was performed in 30 patients with retinal dystrophy who had a negative ES result. Five cases were solved by the identification of pathogenic copy number variations (CNVs). Bioinformatic analysis focused on CNV detection should be incorporated in samples with an inconclusive molecular ...
Fabian-Morales GE, Ordoñez-Labastida V, Garcia-Martínez F, Montes-Almanza L, Zenteno JC.   +4 more
europepmc   +2 more sources

IgG entry and deposition are components of the neuroimmune response in Batten disease

Neurobiology of Disease, 2007
Patients and a mouse model of Batten disease, the juvenile form of neuronal ceroid lipofuscinosis (JNCL), raise autoantibodies against GAD65 and other brain-directed antigens. Here we investigate the adaptive component of the neuroimmune response. Cln3−/−
Ming J. Lim, Noreen Alexander, Jared W. Benedict, Subrata Chattopadhyay, Stephen J.A. Shemilt, Christopher J. Guérin, Jonathan D. Cooper, David A. Pearce   +7 more
doaj   +1 more source

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

BMC Neuroscience, 2004
Background JNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3 mutation. The resulting loss of battenin activity leads to deposition of mitochondrial ATP synthase, subunit c and a specific loss ...
Cattaneo Elena, Rigamonti Dorotea, Gao Hanlin, Teed Allison M, Lubicz-Nawrocka Tanya, Espinola Janice A, Wolf Pavlina, Fossale Elisa, MacDonald Marcy E, Cotman Susan L   +9 more
doaj   +1 more source

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2008
Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz, Gary S. Johnson, Gregory E. Tullis, Bo Lei   +3 more
doaj   +1 more source

El Niño impacts on human‐modified tropical forests: Consequences for dung beetle diversity and associated ecological processes

Biotropica, Volume 52, Issue 2, Page 252-262, March 2020., 2020
Abstract Our knowledge of how tropical forest biodiversity and functioning respond to anthropogenic and climate‐associated stressors is limited. Research exploring El Niño impacts are scarce or based on single post‐disturbance assessments, and few studies assess forests previously affected by anthropogenic disturbance.
Filipe M. França, Joice Ferreira, Fernando Z. Vaz‐de‐Mello, Laís F. Maia, Erika Berenguer, Alessandro Ferraz Palmeira, Rodrigo Fadini, Júlio Louzada, Rodrigo Braga, Victor Hugo Oliveira, Jos Barlow   +10 more
wiley   +1 more source