Genetics of neurodegenerative diseases
Open accessAbstract
This issue contains a number of articles on neurodegenerative diseases, most of them genotypically analyzed with next-generation sequencing. Readers will find articles identifying potential mutations in new genes, articles examining different phenotypes associated with variation in the same gene, and a report showing an unusual phenotype associated with a known mutation in the PRNP gene. Finally, the imaging phenotypes of mutations in 2 different frontotemporal lobar dysfunction (FTLD) genes are compared.
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The TTC3 gene is involved in the regulation of AKT signaling and is related with immune tolerance and neuronal cell survival.
“Furthermore, the TTC3 gene is also involved in the regulation of AKT signaling and is related with immune tolerance and neuronal cell survival (Chen et al., 2003; Liu et al., 2009; Pulst, 2016).”
From Identification of Candidate Signature Genes and Key Regulators Associated With Trypanotolerance in the Sheko Breed (2019) · cites this paper as Pulst, 2016
The main text (page not given) states that TTC3 regulates Akt signaling. It does not mention immune tolerance or neuronal cell survival, so those parts of the claim are not supported by this paper. (LLM, conf=0.90)
Experimental — accuracy not yet measuredActivated AKT is a mediator of neuronal cell survival.
“In addition, activated AKT is a mediator of neuronal cell survival (Liu et al., 2002; Chen et al., 2003; Pulst, 2016).”
From Identification of Candidate Signature Genes and Key Regulators Associated With Trypanotolerance in the Sheko Breed (2019) · cites this paper as Pulst, 2016
The section “Genetics of neurodegenerative diseases” (page not provided) calls Akt signaling a key pathway disrupted in late-onset Alzheimer disease. It does not address whether activated AKT mediates neuronal cell survival; searches for activated AKT and neuronal survival found no such passage. (LLM, conf=0.76)
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Research works printed but not linked: 4
- [1]Kohli MA Cukier HN Hamilton-Nelson KL Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease. Neurol Genet 2016; 2: e41. 10.1212/NXG.0000000000000041. 27066578 PMC4817909 · DOI
- [2]Nuytemans K Maldonado L Ali A Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants. Neurol Genet 2016; 2: e44. 10.1212/NXG.0000000000000044. 27066581 PMC4817903 · DOI
- [3]Mano KK Matsukawa T Mitsui J Atypical parkinsonism caused by Pro105Leu mutation of prion protein: a broad clinical spectrum. Neurol Genet 2016; 2: e48. 10.1212/NXG.0000000000000048. 27066585 PMC4817902 · DOI
- [4]Ameur F Colliot O Caroppo P White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations. Neurol Genet 2016; 2: e47. 10.1212/NXG.0000000000000047. 27066584 PMC4817905 · DOI
Cited by
Sorted by citations
Mekonnen, Y. A., Gültas, M., Effa, K., Hanotte, O., & Schmitt, A. O. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01095 · Cited by 37 · see citing works
- Authors
- Pulst, S. M.
- Affiliations
- University of Utah (US)
- Corresponding author
- Pulst, Stefan M.
- ORCID
- Pulst, Stefan M.
- Venue
- Neurology Genetics
- Published
- 2016-02
- Volume
- 2
- Issue
- 1
- Pages
- e52-e52
- ISSN
- 2376-7839 (ISSN-L)
- PMC
- PMC4817898
- OpenAlex
- W2304053011
- Cited by
- 1
- References
- 0
- Citations by year
- 2019: 1
- FWCI
- 0.25
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Neurology Genetics (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- neurodegenerative diseases, genetic mutations, PRNP gene, prion disease, frontotemporal lobar degeneration, genetic variants, phenotypic variability, neuroimaging phenotypes
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