H
Heather Mortiboys
Researcher at University of Sheffield
Publications - 60
Citations - 2845
Heather Mortiboys is an academic researcher from University of Sheffield. The author has contributed to research in topics: Mitochondrion & Mitophagy. The author has an hindex of 21, co-authored 54 publications receiving 2246 citations. Previous affiliations of Heather Mortiboys include Dresden University of Technology & University of York.
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Journal ArticleDOI
Mitochondrial function and morphology are impaired in parkin mutant fibroblasts
Heather Mortiboys,Kelly Jean Thomas,Werner J.H. Koopman,Stefanie Klaffke,Patrick M. Abou-Sleiman,Simon E. Olpin,Nicholas W. Wood,Peter H.G.M. Willems,Jan A.M. Smeitink,Mark R. Cookson,Oliver Bandmann +10 more
TL;DR: The aim of this study was to determine mitochondrial function and morphology in parkin‐mutant patients and to investigate whether pharmacological rescue of impaired mitochondrial function may be possible in Parkin‐Mutant human tissue.
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Rapamycin activation of 4E-BP prevents parkinsonian dopaminergic neuron loss
Luke S Tain,Heather Mortiboys,Ran N. Tao,Elena Ziviani,Oliver Bandmann,Alexander J. Whitworth +5 more
TL;DR: It is found that overexpression of the translation inhibitor Thor (4E-BP) can suppress all of the pathologic phenotypes, including degeneration of dopaminergic neurons in Drosophila.
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Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2
TL;DR: Evidence is provided for impaired mitochondrial function and morphology in LRRK2G2019S mutant patient tissue, which is the most common identifiable cause for Parkinson disease (PD), and whether the impaired mitochondria function is due to increased LRRk2 kinase activity or other mechanisms such as L RRK2 haploinsufficiency.
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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Laura E. Cox,Laura Ferraiuolo,Emily F. Goodall,Paul R. Heath,Adrian Higginbottom,Heather Mortiboys,Hannah Hollinger,Judith Hartley,Alice Brockington,Christine Burness,Karen E. Morrison,Stephen B. Wharton,Andrew J. Grierson,Paul G. Ince,Janine Kirby,Pamela J. Shaw +15 more
TL;DR: In a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS, indicating the likely pathogenicity of the reported gene alterations.
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Complex I deficiency and dopaminergic neuronal cell loss in parkin-deficient zebrafish (Danio rerio)
Laura J. Flinn,Heather Mortiboys,Katrin Volkmann,Reinhard W. Köster,Phillip W. Ingham,Oliver Bandmann +5 more
TL;DR: A zebrafish model for Parkin deficiency, the most commonly mutated gene in early onset Parkinson's disease, is developed, making this the first vertebrate model to share both important pathogenic mechanisms and the pathological hallmark with human parkin-mutant patients.