ArticleScientific reports2015
Distinct X-chromosome SNVs from some sporadic AD samples.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Chromosome X-wide association study in case control studies of pathologically confirmed Alzheimer's disease in a European population.Translational psychiatry · 2024Pooled it
- Gene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene.Gene therapy · 2025Article
- Diagnostic implications of ubiquitination-related gene signatures in Alzheimer's disease.Scientific reports · 2024Article
- Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.Human genetics · 2023Review
- Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.Autophagy · 2022Article
- Estimating the X chromosome-mediated risk for developing Alzheimer's disease.Journal of neurology · 2022Article
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Delineation of Neuroprotective Effects and Possible Benefits of AntioxidantsTherapy for the Treatment of Alzheimer's Diseases by Targeting Mitochondrial-Derived Reactive Oxygen Species: Bench to Bedside.Molecular neurobiology · 2022Review
- RNA Sequencing Analysis of Gene Expression by Electroacupuncture in Guinea Pig Gallstone Models.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Whole-Genome Sequencing IdentifiedFrontiers in medicine · 2022Article
- The X Files: "The Mystery of X Chromosome Instability in Alzheimer's Disease".Frontiers in genetics · 2019Review
- Human Brain Single Nucleotide Polymorphism: Validation of DNA Sequencing.Journal of Alzheimer's disease reports · 2018Review
- Our Working Point of View of Tau Protein.Journal of Alzheimer's disease : JAD · 2018Review
- Toward common mechanisms for risk factors in Alzheimer's syndrome.Alzheimer's & dementia (New York, N. Y.) · 2017Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sporadic Alzheimer disease (SAD) is the most prevalent neurodegenerative disorder. With the development of new generation DNA sequencing technologies, additional genetic risk factors have been described. Here we used various methods to process DNA sequencing data in order to gain further insight into this important disease. We have sequenced the exomes of brain samples from SAD patients and non-demented controls. Using either method, we found a higher number of single nucleotide variants (SNVs), from SAD patients, in genes present at the X chromosome. Using the most stringent method, we validated these variants by Sanger sequencing. Two of these gene variants, were found in loci related to the ubiquitin pathway (UBE2NL and ATXN3L), previously do not described as genetic risk factors for SAD.
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