Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Danuta Loesch; David Godler; Andrew Evans; Quang Bui; Freya Gehling; Katya Kotschet; Nicholas Trost; Elsdon Storey; Paige Stimpson; Glynda Kinsella; David Francis; David Thorburn; Alison Venn; Howard Slater; Malcolm Horne

doi:10.1097/GIM.0b013e3182064362

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Danuta Loesch, David Godler, Andrew Evans, Quang Bui, Freya Gehling, Katya Kotschet, Nicholas Trost, Elsdon Storey, Paige Stimpson, Glynda Kinsella, David Francis, David Thorburn, Alison Venn, Howard Slater, Malcolm Horne

Department of Neuroscience

Research output: Contribution to journal › Article › Research › peer-review

57 Citations (Scopus)

Abstract

Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders.

Original language	English
Pages (from-to)	392 - 399
Number of pages	8
Journal	Genetics in Medicine
Volume	13
Issue number	5
DOIs	https://doi.org/10.1097/GIM.0b013e3182064362
Publication status	Published - 2011

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Loesch, D., Godler, D., Evans, A., Bui, Q., Gehling, F., Kotschet, K., Trost, N., Storey, E., Stimpson, P., Kinsella, G., Francis, D., Thorburn, D., Venn, A., Slater, H., & Horne, M. (2011). Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genetics in Medicine, 13(5), 392 - 399. https://doi.org/10.1097/GIM.0b013e3182064362

Loesch, Danuta ; Godler, David ; Evans, Andrew ; Bui, Quang ; Gehling, Freya ; Kotschet, Katya ; Trost, Nicholas ; Storey, Elsdon ; Stimpson, Paige ; Kinsella, Glynda ; Francis, David ; Thorburn, David ; Venn, Alison ; Slater, Howard ; Horne, Malcolm. / Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. In: Genetics in Medicine. 2011 ; Vol. 13, No. 5. pp. 392 - 399.

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title = "Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism",

abstract = "Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders.",

author = "Danuta Loesch and David Godler and Andrew Evans and Quang Bui and Freya Gehling and Katya Kotschet and Nicholas Trost and Elsdon Storey and Paige Stimpson and Glynda Kinsella and David Francis and David Thorburn and Alison Venn and Howard Slater and Malcolm Horne",

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pages = "392 -- 399",

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Loesch, D, Godler, D, Evans, A, Bui, Q, Gehling, F, Kotschet, K, Trost, N, Storey, E, Stimpson, P, Kinsella, G, Francis, D, Thorburn, D, Venn, A, Slater, H & Horne, M 2011, 'Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism', Genetics in Medicine, vol. 13, no. 5, pp. 392 - 399. https://doi.org/10.1097/GIM.0b013e3182064362

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. / Loesch, Danuta; Godler, David; Evans, Andrew; Bui, Quang; Gehling, Freya; Kotschet, Katya; Trost, Nicholas; Storey, Elsdon; Stimpson, Paige; Kinsella, Glynda; Francis, David; Thorburn, David; Venn, Alison; Slater, Howard; Horne, Malcolm.

In: Genetics in Medicine, Vol. 13, No. 5, 2011, p. 392 - 399.

Research output: Contribution to journal › Article › Research › peer-review

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T1 - Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

AU - Loesch, Danuta

AU - Godler, David

AU - Evans, Andrew

AU - Bui, Quang

AU - Gehling, Freya

AU - Kotschet, Katya

AU - Trost, Nicholas

AU - Storey, Elsdon

AU - Stimpson, Paige

AU - Kinsella, Glynda

AU - Francis, David

AU - Thorburn, David

AU - Venn, Alison

AU - Slater, Howard

AU - Horne, Malcolm

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AB - Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders.

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U2 - 10.1097/GIM.0b013e3182064362

DO - 10.1097/GIM.0b013e3182064362

M3 - Article

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SP - 392

EP - 399

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 5

ER -

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Abstract

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