Adrian Higginbottom
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Explore the profile of Adrian Higginbottom including associated specialties, affiliations and a list of published articles.
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51
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2281
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Recent Articles
1.
Badger S, Coldicott I, Kyrgiou-Balli E, Higginbottom A, Moutin C, Mohd Imran K, et al.
Dis Model Mech
. 2025 Feb;
18(2).
PMID: 39945358
C9orf72-related amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) has proven difficult to model in mice. Liu et al. (2016) reported a bacterial artificial chromosome (BAC) transgenic mouse displaying behavioural, motor and...
2.
Webster C, Hall B, Crossley O, Dauletalina D, King M, Lin Y, et al.
Life Sci Alliance
. 2024 Dec;
8(2).
PMID: 39638345
A G4C2 hexanucleotide repeat expansion in is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Bidirectional transcription and subsequent repeat-associated non-AUG (RAN) translation of sense and...
3.
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Wiseman J, Scarrott J, Alves-Cruzeiro J, Saffari A, Boger C, Karyka E, et al.
EMBO Mol Med
. 2024 Oct;
16(11):2882-2917.
PMID: 39358605
Spastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in the adaptor protein complex 4 β1 subunit (AP4B1) gene leading to AP-4 complex deficiency. SPG47 is characterised by...
4.
Xia Z, Prescott E, Urbanek A, Wareing H, King M, Olerinyova A, et al.
Nat Commun
. 2024 Jun;
15(1):4695.
PMID: 38824138
Which isoforms of apolipoprotein E (apoE) we inherit determine our risk of developing late-onset Alzheimer's Disease (AD), but the mechanism underlying this link is poorly understood. In particular, the relevance...
5.
Mistry H, Richardson C, Higginbottom A, Ashford B, Ahamed S, Moore Z, et al.
Neurosci Res
. 2024 Jan;
204:22-33.
PMID: 38278219
Altered cholesterol metabolism is implicated in brain ageing and Alzheimer's disease. We examined whether key genes regulating cholesterol metabolism and levels of brain cholesterol are altered in dementia and Alzheimer's...
6.
Castelli L, Lin Y, Sanchez-Martinez A, Gul A, Mohd Imran K, Higginbottom A, et al.
Sci Transl Med
. 2023 Mar;
15(685):eabo3823.
PMID: 36857431
Hexanucleotide repeat expansions in are the most common genetic cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Studies have shown that the hexanucleotide expansions cause the noncanonical...
7.
Bauer C, Webster C, Shaw A, Kok J, Castelli L, Lin Y, et al.
Front Cell Neurosci
. 2023 Jan;
16:1061559.
PMID: 36619668
Disruption to protein homeostasis caused by lysosomal dysfunction and associated impairment of autophagy is a prominent pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). The most common genetic cause...
8.
Giovannelli I, Higginbottom A, Kirby J, Azzouz M, Shaw P
Nat Rev Neurol
. 2022 Dec;
19(1):39-52.
PMID: 36481799
Amyotrophic lateral sclerosis (ALS) is a devastating and incurable neurodegenerative disease characterized by the progressive loss of upper and lower motor neurons. ALS causes death, usually within 2-5 years of...
9.
Marrone L, Marchi P, Webster C, Marroccella R, Coldicott I, Reynolds S, et al.
Hum Mol Genet
. 2022 Mar;
31(16):2693-2710.
PMID: 35313342
Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link between lysosomal aberrations and...
10.
Marmor-Kollet H, Siany A, Kedersha N, Knafo N, Rivkin N, Danino Y, et al.
Mol Cell
. 2020 Nov;
80(5):876-891.e6.
PMID: 33217318
Stress granules (SGs) are cytoplasmic assemblies of proteins and non-translating mRNAs. Whereas much has been learned about SG formation, a major gap remains in understanding the compositional changes SGs undergo...