Results 51 to 60 of about 2,625 (156)

A central role for TOR signalling in a yeast model for juvenile CLN3 disease

Microbial Cell, 2015
Yeasts provide an excellent genetically tractable eukaryotic system for investigating the function of genes in their biological context, and are especially relevant for those conserved genes that cause disease.
Michael E. Bond, Rachel Brown, Charalampos Rallis, Jürg Bähler, Sara E. Mole   +4 more
doaj   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo

Neurobiology of Disease, 2018
The neuronal ceroid lipofuscinoses are a class of inherited neurodegenerative diseases characterized by the accumulation of autofluorescent storage material. The most common neuronal ceroid lipofuscinosis has juvenile onset with rapid onset blindness and
Mark L. Schultz, Luis Tecedor, Elena Lysenko, Shyam Ramachandran, Colleen S. Stein, Beverly L. Davidson   +5 more
doaj   +1 more source

FRET-assisted determination of CLN3 membrane topology. [PDF]

PLoS ONE, 2014
Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, which encodes for a putative lysosomal transmembrane protein with thus far undescribed structure and function. Here we investigate the membrane topology of human CLN3
Ewa Ratajczak, Anton Petcherski, Juliana Ramos-Moreno, Mika O Ruonala   +3 more
doaj   +1 more source

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study

Epilepsia, Volume 66, Issue 7, Page 2480-2494, July 2025.
Abstract Objective The primary purpose was to assess the diagnostic performance of investigations in children with myoclonic epilepsy. The secondary objectives were to examine the definitive syndromic diagnoses and report the outcomes of pediatric myoclonic epilepsies.
Sophie Brulé, Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh‐Bergès, François‐Xavier Mauvais, Stéphane Auvin   +5 more
wiley   +1 more source

Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons

Neurobiology of Disease, 2006
Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessive disorder of childhood caused by mutations in CLN3. Although visual deterioration is typically the first clinical sign to manifest in affected children, loss of Cln3 in a mouse model
Jill M. Weimer, Andrew W. Custer, Jared W. Benedict, Noreen A. Alexander, Evan Kingsley, Howard J. Federoff, Jonathan D. Cooper, David A. Pearce   +7 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy

CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.
This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Yuheng Zhang, Bingying Du, Miaozhan Zou, Bo Peng, Yanxia Rao   +4 more
wiley   +1 more source

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Developmental Medicine &Child Neurology, Volume 67, Issue 2, Page 186-194, February 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16100 This original article is commented by Wolf et al. on pages 143–144 of this issue. Abstract Aim To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.
Jaakko H. Oikarainen, Oula A. Knuutinen, Salla M. Kangas, Elisa J. Rahikkala, Tytti M.‐L. Pokka, Jukka S. Moilanen, Reetta M. Hinttala, Päivi M. Vieira, Johanna M. Uusimaa, Maria H. Suo‐Palosaari   +9 more
wiley   +1 more source

Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. [PDF]

PLoS ONE, 2013
Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene.
Amanda Getty, Attila D Kovács, Tímea Lengyel-Nelson, Andrew Cardillo, Caitlin Hof, Chun-Hung Chan, David A Pearce   +6 more
doaj   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source