Liam Kempthorne
Overview
Explore the profile of Liam Kempthorne including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
128
Followers
0
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Recent Articles
1.
Kempthorne L, Vaizoglu D, Cammack A, Carcole M, Roberts M, Mikheenko A, et al.
Nat Commun
. 2025 Jan;
16(1):459.
PMID: 39779704
The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic GC repeat expansion in C9orf72. The repeats undergo bidirectional transcription to produce sense...
2.
Licata N, Cristofani R, Salomonsson S, Wilson K, Kempthorne L, Vaizoglu D, et al.
EMBO J
. 2021 Nov;
41(1):e105026.
PMID: 34791698
Intronic GGGGCC (G4C2) hexanucleotide repeat expansion within the human C9orf72 gene represents the most common cause of familial forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (C9ALS/FTD). Repeat-associated...
3.
Atilano M, Gronke S, Niccoli T, Kempthorne L, Hahn O, Moron-Oset J, et al.
Elife
. 2021 Mar;
10.
PMID: 33739284
G4C2 repeat expansions within the gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The repeats undergo repeat-associated non-ATG translation to generate toxic...
4.
Kempthorne L, Yoon H, Madore C, Smith S, Wszolek Z, Rademakers R, et al.
Acta Neuropathol Commun
. 2020 Jun;
8(1):90.
PMID: 32580749
An amendment to this paper has been published and can be accessed via the original article.
5.
Kempthorne L, Yoon H, Madore C, Smith S, Wszolek Z, Rademakers R, et al.
Acta Neuropathol Commun
. 2020 May;
8(1):72.
PMID: 32430064
Microglia are resident macrophages of the central nervous system, and their unique molecular signature is dependent upon CSF-1 signaling. Previous studies have demonstrated the importance of CSF-1R in survival and...
6.
Soutar M, Kempthorne L, Annuario E, Luft C, Wray S, Ketteler R, et al.
Autophagy
. 2019 May;
15(11):2002-2011.
PMID: 31060423
Mitochondrial quality control is essential for maintaining a healthy population of mitochondria. Two proteins associated with Parkinson disease, the kinase PINK1 and the E3 ubiquitin ligase PRKN, play a central...
7.
Soutar M, Kempthorne L, Miyakawa S, Annuario E, Melandri D, Harley J, et al.
Sci Rep
. 2018 Jun;
8(1):8855.
PMID: 29891871
The discovery of mutations within genes associated with autosomal recessive Parkinson's disease allowed for the identification of PINK1/Parkin regulated mitophagy as an important pathway for the removal of damaged mitochondria....