ArticleHuman molecular genetics2012
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 1 of them a synthesis that pooled it.
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Who cites it
134 citing papers in PubMed, 1 synthesis or guideline pooled it, 261 citations in OpenAlex.
- Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2019Pooled it
- Species-dependent activities of the PINK1-parkin axis.Translational neurodegeneration · 2026Review
- Article
- Progress in modelling ATP13A2-linked neurodegeneration.NPJ Parkinson's disease · 2026Review
- Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation.Journal of neurochemistry · 2026Article
- ATP13A2-Mediated Spermine Export Modulates Lipid Catabolism in the Endolysosomal System of SH-SY5Y Cells.International journal of molecular sciences · 2026Article
- Polyamine Metabolism in Brain Health and Disease.Neuropharmacology and therapy · 2026Article
- Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets.Nature reviews. Neurology · 2025Review
- Polyamine homeostasisbioRxiv : the preprint server for biology · 2025Article
- Phenotype Differences Between ATP13A2 Heterozygous and Knockout Mice Across Aging.International journal of molecular sciences · 2025Article
- Genetic Sketch of Parkinson's Disease in India.Annals of Indian Academy of Neurology · 2025Article
- Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.CNS neuroscience & therapeutics · 2025Review
- Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.Molecular genetics & genomic medicine · 2025Article
- Direct measurement of ATP13A2 polyamine-dependent ATPase activity following rapid purification of lysosomes.Methods in enzymology · 2025Article
- Mechanisms of autophagy-lysosome dysfunction in neurodegenerative diseases.Nature reviews. Molecular cell biology · 2024Review
- Adult-onset deletion of ATP13A2 in mice induces progressive nigrostriatal pathway dopaminergic degeneration and lysosomal abnormalities.NPJ Parkinson's disease · 2024Article
- Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.BMC neurology · 2024Article
- CLN3 deficiency leads to neurological and metabolic perturbations during early development.Life science alliance · 2024Article
- Dem-Aging: autophagy-related pathologies and the "two faces of dementia".Neurogenetics · 2024Article
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.Neurobiology of disease · 2023Review
74 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 5 countries.
Funding
Abstract
Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as the cause of different types of NCL, with ages at onset ranging from around birth to adult, although the underlying etiology of the disease still remains elusive. We present a family with typical NCL pathology in which we performed exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates with disease within the family. Mutations in ATP13A2 are a known cause of Kufor-Rakeb syndrome (KRS), a rare parkinsonian phenotype with juvenile onset. These data show that NCL and KRS may share etiological features and implicate the lysosomal pathway in Parkinson's disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.