Associated Papers
Autosomal dominant Kufs disease in a Georgian adult woman: A case report.
Papiashvili N et al.
Epilepsy & Behavior Reports, 2025
CHIP protects lysosomes from CLN4 mutant-induced membrane damage.
Lee J et al.
Nature Cell Biology, 2025
Uncovering the role of the Hsp40 family member cysteine string protein-α in mouse platelets.
Smith AN et al.
Blood Advances, 2025
Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency.
López-Begines S et al.
Science Advances, 2025
CHIP protects lysosomes from CLN4 mutant-induced membrane damages.
Lee J et al.
Biorxiv : the Preprint Server for Biology, 2025
Cysteine string protein α and a link between rare and common neurodegenerative dementias.
Rosene MJ et al.
Npj Dementia, 2025
Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review.
Huang H et al.
Medicine, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Proximity labelling reveals effects of disease-causing mutation on the DNAJC5/cysteine string protein α interactome.
Barker E et al.
The Biochemical Journal, 2024
L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration.
Guo T et al.
Molecular Neurobiology, 2024
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic.
Barker E et al.
Human Molecular Genetics, 2023
Unconventional secretion of α-synuclein mediated by palmitoylated DNAJC5 oligomers.
Wu S et al.
Elife, 2023
Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.
Lee J et al.
Autophagy, 2023
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
He Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.
Li W et al.
Molecular Omics, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease).
Kim WD et al.
Frontiers in Cell and Developmental Biology, 2022
Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.
Huang Q et al.
Frontiers in Aging Neuroscience, 2022
CSPα in neurodegenerative diseases.
Huang L et al.
Frontiers in Aging Neuroscience, 2022
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N et al.
Clinical Genetics, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I et al.
European Journal of Human Genetics : Ejhg, 2020
DNAJC proteins and pathways to parkinsonism.
Roosen DA et al.
The Febs Journal, 2019
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
Tristán-Noguero A et al.
Journal of Inherited Metabolic Disease, 2018
LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells.
Trepte P et al.
Molecular Systems Biology, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis.
Benitez BA et al.
Scientific Reports, 2017
Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish.
Yao X et al.
Human Gene Therapy, 2017
A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
Diez-Ardanuy C et al.
Scientific Reports, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.
Gorenberg EL et al.
Frontiers in Neuroscience, 2017
DnaJ/Hsp40 Family and Parkinson's Disease.
Hasegawa T et al.
Frontiers in Neuroscience, 2017
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Henderson MX et al.
Acta Neuropathologica, 2016
Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.
Benitez BA et al.
Acta Neuropathologica Communications, 2015