Results 61 to 70 of about 2,322 (154)

Batten disease: evaluation of CLN3 mutations on protein localization and function [PDF]

Human Molecular Genetics, 2000
Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. CLN3 has no known homology to other proteins and a function has not yet been described. The predominant mutation in CLN3 is a 1.02 kb genomic deletion that accounts for nearly 85% of the disease alleles.
R E, Haskell, C J, Carr, D A, Pearce, M J, Bennett, B L, Davidson   +4 more
openaire   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +1 more source

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

Neurobiology of Disease, 1999
Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease.
Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum   +13 more
doaj   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells

Scientific Reports
Mutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models.
D. Wünkhaus, R. Tang, K. Nyame, N. N. Laqtom, M. Schweizer, A. Scotto Rosato, E. K. Krogsæter, C. Wollnik, M. Abu-Remaileh, C. Grimm, G. Hermey, R. Kuhn, D. Gruber-Schoffnegger, S. Markmann   +13 more
doaj   +1 more source

Phenotypic variant of CLN3 mutation

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report a case of bilateral chorioretinal scarring due to CLN3 heterozygous deletion in an asymptomatic patient. Observations: A 63 year-old patient with a history of well-controlled diabetes presented as a referral for diabetic retinopathy ...
Avinash Honasoge, Bradley T. Smith, MD
doaj   +1 more source

Proteomics Insights Into Lysosome Biogenesis and Maturation

PROTEOMICS, Volume 25, Issue 21-22, Page 6-24, November 2025.
ABSTRACT Lysosomes constitute the main degradative organelle of most eukaryotic cells and are capable of breaking down a wide spectrum of biomolecules, including proteins, lipids, glycans, and DNA/RNA. They play crucial roles in the regulation of cellular homeostasis, acting as metabolic signaling centers for the correlation of nutrient availability ...
Katharina Hirn, Sofía Fajardo‐Callejón, Dominic Winter   +2 more
wiley   +1 more source

Searching for novel biomarkers using a mouse model of CLN3-Batten disease. [PDF]

PLoS ONE, 2018
CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease ...
Derek Timm, Jacob T Cain, Ryan D Geraets, Katherine A White, Seung Yon Koh, Tammy Kielian, David A Pearce, Michelle L Hastings, Jill M Weimer   +8 more
doaj   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures

Neurobiology of Disease, 2011
Juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease is an autosomal recessive neurodegenerative disorder of children caused by mutation in CLN3.
Song-Lin Ding, Luis Tecedor, Colleen S. Stein, Beverly L. Davidson   +3 more
doaj   +1 more source