ArticleJournal of neuroscience research2016
Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.
Article in Journal of neuroscience research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Establishing gene regulatory networks from Parkinson's disease risk loci.Brain : a journal of neurology · 2022Pooled it
- Pooled it
- A sensitive LC‑MS/MS method for the simultaneous quantification of hexosylceramides and hexosylsphingosines, their precursors and metabolites in cells, plasma, and tissue homogenates.Analytical and bioanalytical chemistry · 2026Article
- Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.Human genomics · 2025Article
- High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.European journal of neurology · 2025Article
- Role of Lipids in the Pathogenesis of Parkinson's Disease.International journal of molecular sciences · 2024Review
- Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson's disease GBA-N370S dopamine neurons.Cell reports · 2023Article
- Temporal Alterations of Sphingolipids in Optic Nerves After Indirect Traumatic Optic Neuropathy.Ophthalmology science · 2023Article
- Neurodegenerative Disorder Risk in Krabbe Disease Carriers.International journal of molecular sciences · 2022Article
- Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.PLoS biology · 2022Article
- Chronic lithium administration in a mouse model for Krabbe disease.JIMD reports · 2022Article
- CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β-Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease.Frontiers in molecular neuroscience · 2022Article
- Ceramide Metabolism and Parkinson's Disease-Therapeutic Targets.Biomolecules · 2021Review
- Biophysical processes underlying cross-seeding in amyloid aggregation and implications in amyloid pathology.Biophysical chemistry · 2021Review
- Lipids: Key Players That Modulate α-Synuclein Toxicity and Neurodegeneration in Parkinson's Disease.International journal of molecular sciences · 2020Review
- AAV-Mediated GALC Gene Therapy Rescues Alpha-Synucleinopathy in the Spinal Cord of a Leukodystrophic Lysosomal Storage Disease Mouse Model.Frontiers in cellular neuroscience · 2020Article
- Comprehensive Proteomic Profiling of Urinary Exosomes and Identification of Potential Non-invasive Early Biomarkers of Alzheimer's Disease in 5XFAD Mouse Model.Frontiers in genetics · 2020Article
- Parkinson's disease: proteinopathy or lipidopathy?NPJ Parkinson's disease · 2020Review
- The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.International journal of molecular sciences · 2019Review
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2 authors at 1 institution in 1 country.
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Abstract
New insights into the pathophysiological mechanisms behind late-onset neurodegenerative diseases have come from unexpected sources in recent years. Specifically, the group of inherited metabolic disorders known as lysosomal storage diseases that most commonly affect infants has been found to have surprising similarities with adult neurodegenerative disorders. Most notable has been the identification of Gaucher's disease as a comorbidity for Parkinson's disease. Prompted by the recent identification of neuronal aggregates of α-synuclein in another lysosomal storage disease, Krabbe's disease, we propose the idea that a similar connection exists between adult synucleinopathies and Krabbe's. Similarities between the two diseases, including the pattern of α-synuclein aggregation in the brain of the twitcher mouse (the authentic murine model of Krabbe's disease), changes to lipid membrane dynamics, and possible dysfunction in synaptic function and macroautophagy, underscore a link between Krabbe's disease and late-onset synucleinopathies. Silent GALC mutations may even constitute a risk factor for the development of Parkinson's in certain patients. More research is required to identify definitively any link and the validity of this hypothesis, but such a connection would prove invaluable for developing novel therapeutic targets for Parkinson's based on our current understanding of Krabbe's disease and for establishing new biomarkers for the identification of at-risk patients. © 2016 Wiley Periodicals, Inc.
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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.