Eric A Shoubridge
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Explore the profile of Eric A Shoubridge including associated specialties, affiliations and a list of published articles.
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98
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5116
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Recent Articles
1.
Brischigliaro M, Kruger A, Moran J, Antonicka H, Ahn A, Shoubridge E, et al.
Nucleic Acids Res
. 2024 Jul;
52(16):9710-9726.
PMID: 39036954
The prokaryotic translation elongation factor P (EF-P) and the eukaryotic/archaeal counterparts eIF5A/aIF5A are proteins that serve a crucial role in mitigating ribosomal stalling during the translation of specific sequences, notably...
2.
Shoubridge E, Barrientos A
Hum Mol Genet
. 2024 May;
33(R1):R1-R2.
PMID: 38779767
No abstract available.
3.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis
Janer A, Morris J, Krols M, Antonicka H, Aaltonen M, Lin Z, et al.
Life Sci Alliance
. 2023 Nov;
7(1).
PMID: 37931956
Mitochondria interact with the ER at structurally and functionally specialized membrane contact sites known as mitochondria-ER contact sites (MERCs). Combining proximity labelling (BioID), co-immunoprecipitation, confocal microscopy and subcellular fractionation, we...
4.
Zhong H, Janer A, Khalimonchuk O, Antonicka H, Shoubridge E, Barrientos A
Nucleic Acids Res
. 2023 Oct;
51(21):11797-11812.
PMID: 37823603
The human mitochondrial ribosome contains three [2Fe-2S] clusters whose assembly pathway, role, and implications for mitochondrial and metabolic diseases are unknown. Here, structure-function correlation studies show that the clusters play...
5.
Schuettpelz J, Janer A, Antonicka H, Shoubridge E
Life Sci Alliance
. 2023 Mar;
6(6).
PMID: 36977595
Mutations in underlie a wide spectrum of neurodegenerative diseases associated with alterations in mitochondrial morphology. We established an SLC25A46 knock-out cell line in human fibroblasts and studied the pathogenicity of...
6.
Petel Legare V, Rampal C, Gurberg T, Aaltonen M, Janer A, Zinman L, et al.
Dev Neurobiol
. 2023 Feb;
83(1-2):54-69.
PMID: 36799027
Mutations in CHCHD10 and CHCHD2, encoding two paralogous mitochondrial proteins, have been identified in cases of amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and Parkinson's disease. Their role in disease is...
7.
Lone M, Aaltonen M, Zidell A, Pedro H, Morales Saute J, Mathew S, et al.
J Clin Invest
. 2022 Jul;
132(18).
PMID: 35900868
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which catalyzes the first step in the de...
8.
Shoubridge E
Med
. 2022 May;
2(1):11-13.
PMID: 35590127
The advent of whole-exome sequencing ushered in a new era of in the genetic diagnosis of rare diseases, but characterizing large alterations in genome architecture has remained challenging. In this...
9.
Go C, Knight J, Rajasekharan A, Rathod B, Hesketh G, Abe K, et al.
Nature
. 2022 Jan;
602(7895):E16.
PMID: 35017685
No abstract available.
10.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella G, et al.
Brain
. 2021 Nov;
145(4):1519-1534.
PMID: 34788392
With more than 40 causative genes identified so far, autosomal dominant cerebellar ataxias exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular diagnosis. In a large...