J Paul Chapple
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Explore the profile of J Paul Chapple including associated specialties, affiliations and a list of published articles.
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62
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2358
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Recent Articles
1.
Perna L, Salsbury G, Dushti M, Smith C, Morales V, Bianchi K, et al.
Int J Mol Sci
. 2025 Jan;
25(24.
PMID: 39769008
Mitochondrial dysfunction is implicated in the pathogenesis of the neurological condition autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), yet precisely how the mitochondrial metabolism is affected is unknown. Thus, to...
2.
Mcleod J, Lim C, Stokes T, Sharif J, Zeynalli V, Wiens L, et al.
NAR Mol Med
. 2024 Dec;
1(4):ugae016.
PMID: 39669123
A majority of human genes produce non-protein-coding RNA (ncRNA), and some have roles in development and disease. Neither ncRNA nor human skeletal muscle is ideally studied using short-read sequencing, so...
3.
Mcleod J, Lim C, Stokes T, Sharif J, Zeynalli V, Wiens L, et al.
bioRxiv
. 2024 Oct;
PMID: 39416175
A majority of human genes produce non-protein-coding RNA (ncRNA), and some have roles in development and disease. Neither ncRNA nor human skeletal muscle is ideally studied using short-read sequencing, so...
4.
Marszalek J, De Los Rios P, Cyr D, Mayer M, Adupa V, Andreasson C, et al.
Cell Stress Chaperones
. 2024 Feb;
29(1):21-33.
PMID: 38320449
J-domain proteins (JDPs) are the largest family of chaperones in most organisms, but much of how they function within the network of other chaperones and protein quality control machineries is...
5.
Perna L, Castelli M, Frasnetti E, Romano L, Colombo G, Prodromou C, et al.
Front Mol Biosci
. 2023 Jan;
9:1074714.
PMID: 36710881
The ataxia-linked protein sacsin has three regions of partial homology to Hsp90's N-terminal ATP binding domain. Although a crystal structure for this Hsp90-like domain has been reported the precise molecular...
6.
Prodromou C, Aran-Guiu X, Oberoi J, Perna L, Chapple J, van der Spuy J
Subcell Biochem
. 2022 Dec;
101:389-425.
PMID: 36520314
Molecular chaperones and their associated co-chaperones are essential in health and disease as they are key facilitators of protein-folding, quality control and function. In particular, the heat-shock protein (HSP) 70...
7.
Romano L, Aw W, Hixson K, Novoselova T, Havener T, Howell S, et al.
Cell Rep
. 2022 Nov;
41(5):111580.
PMID: 36323248
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament...
8.
Sladen P, Jovanovic K, Guarascio R, Ottaviani D, Salsbury G, Novoselova T, et al.
Hum Mol Genet
. 2022 Jun;
31(20):3478-3493.
PMID: 35652445
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterized by the preferential loss of retinal ganglion cells (RGCs), resulting in optic nerve degeneration and progressive bilateral...
9.
Meireles C, de Lima C, Oliveira M, Miranda R, Romano L, Yo-Stella Brashaw T, et al.
Mol Cell Endocrinol
. 2021 Oct;
539:111484.
PMID: 34637881
Pheochromocytomas (PCCs) are rare neuroendocrine tumors derived from adrenal medulla chromaffin cells. Malignancy and recurrence are rare but demand effective treatment. Metformin exerts antiproliferative effects in several cancer cell lines....
10.
Sladen P, Perdigao P, Salsbury G, Novoselova T, van der Spuy J, Chapple J, et al.
Mol Ther Nucleic Acids
. 2021 Sep;
26:432-443.
PMID: 34589289
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in the United Kingdom. DOA has an insidious onset in early childhood, typically presenting with bilateral, central visual...