Results 91 to 100 of about 3,421 (195)

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation [PDF]

, 2016
We have previously reported the whole genome genotyping analysis of 2 consanguineous siblings clinically diagnosed with early onset Alzheimer's disease (AD).
Alves, AM, Blesa, R, Bras, J, Clarimon, J, Darwent, L, Djaldetti, R, Guerreiro, R, Hardy, J, Lleo, A, Luis Molinuevo, J, Mead, S, Singleton, A   +11 more
core   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

eLife, 2019
The autosomal dominant neuronal ceroid lipofuscinoses (NCL) CLN4 is caused by mutations in the synaptic vesicle (SV) protein CSPα. We developed animal models of CLN4 by expressing CLN4 mutant human CSPα (hCSPα) in Drosophila neurons. Similar to patients,
Elliot Imler, Jin Sang Pyon, Selina Kindelay, Meaghan Torvund, Yong-quan Zhang, Sreeganga S Chandra, Konrad E Zinsmaier   +6 more
doaj   +1 more source

Lentiviral-mediated gene transfer to the sheep brain: Implications for gene therapy in batten disease [PDF]

, 2011
The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are inherited neurodegenerative lysosomal storage diseases with common clinical features of blindness and seizures culminating in premature death. Gene-therapy strategies for these diseases depend
Barry, Lucy A, Black, Michael A, Hughes, Stephanie M, Kay, Graham W, Linterman, Kathryn S, McFarlane, Robin G, Mitchell, Nadia L, Palmer, David N, Sands, Mark S   +8 more
core   +2 more sources

Illuminating Immunity: A Systematic Review of Immune Cell Autofluorescence

Journal of Biophotonics, Volume 18, Issue 6, June 2025.
ABSTRACT Immunophenotyping provides valuable prognostic and diagnostic information, but is technically complex and expensive. The assessment of autofluorescence is label‐free and provides complex information on cell identity. However, research on its application to immunophenotyping has been heterogenous.
Aline Knab, Caroline Giardina, Shane T. Grey, Ewa M. Goldys, Jared M. Campbell   +4 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

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons

BMC Cell Biology, 2007
Background Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 ...
Jauhiainen Matti, Saarela Jani, Kopra Outi, Salonen Tarja, von Schantz Carina, Lyly Annina, Kyttälä Aija, Jalanko Anu   +7 more
doaj   +1 more source

Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

Stem Cell Research
The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments.
Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J. Minnis, Michael J. Devine, Sara E. Mole, Paul Gissen, Maëlle Lorvellec   +7 more
doaj   +1 more source

New zebrafish models of neurodegeneration [PDF]

, 2015
In modern biomedicine, the increasing need to develop experimental models to further our understanding of disease conditions and delineate innovative treatments has found in the zebrafish (Danio rerio) an experimental model, and indeed a valuable asset ...
A Nasevicius, A Vaccaro, AE Schaffer, AJ Rennekamp, AM Stewart, B Schmid, Claire Russell, DI Shah, EM Caramillo, F Ivanes, F Mahmood, HQ Jiang, JB Phillips, JW Mink, K Wager, K Wager, KC Donnell, KL Cerveny, L Wang, M Bond, M Nguyen, Michelangelo Campanella, MK Lin, PR Kasher, Rebeca Martín-Jiménez, S Ajroud-Driss, TO Auer, VT Cunliffe, Y Namavar   +28 more
core   +2 more sources