The role of splicing factors in retinitis pigmentosaCitation formats

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The role of splicing factors in retinitis pigmentosa : links to cilia. / Maxwell, Dale W; O'Keefe, Raymond T; Roy, Sudipto; Hentges, Kathryn E.

In: Biochemical Society Transactions, Vol. 49, No. 3, 30.06.2021, p. 1221-1231.

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Maxwell, DW, O'Keefe, RT, Roy, S & Hentges, KE 2021, 'The role of splicing factors in retinitis pigmentosa: links to cilia', Biochemical Society Transactions, vol. 49, no. 3, pp. 1221-1231. https://doi.org/10.1042/BST20200798

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Maxwell, Dale W ; O'Keefe, Raymond T ; Roy, Sudipto ; Hentges, Kathryn E. / The role of splicing factors in retinitis pigmentosa : links to cilia. In: Biochemical Society Transactions. 2021 ; Vol. 49, No. 3. pp. 1221-1231.

Bibtex

@article{70c340843b154f36bf1af98a3e491df3,
title = "The role of splicing factors in retinitis pigmentosa: links to cilia",
abstract = "Cilia are critical to numerous biological functions, both in development and everyday homeostatic processes. Diseases arising from genetic mutations that cause cilia dysfunction are termed ciliopathies. Several ubiquitously expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP the disease affects the modified primary cilium of the photoreceptor cells and thus, these types of RP are considered ciliopathies. Here, we discuss sequence variants found within a number of these splicing factors, the resulting phenotypes, and the mechanisms underpinning disease pathology. Additionally, we discuss recent evidence investigating why RP patients with mutations in globally expressed splicing factors present with retina-specific phenotypes.",
author = "Maxwell, {Dale W} and O'Keefe, {Raymond T} and Sudipto Roy and Hentges, {Kathryn E}",
note = "Funding Information: This research was supported by British Heart Foundation Project Grant PG/18/28/33632 to K.E.H. and The Agency for Science, Technology and Research (A*STAR) of Singapore to S.R. D.W.M. was supported by a University of Manchester/A*STAR PhD studentship. Publisher Copyright: {\textcopyright} 2021 The Author(s).",
year = "2021",
month = jun,
day = "30",
doi = "10.1042/BST20200798",
language = "English",
volume = "49",
pages = "1221--1231",
journal = "Biochemical Society. Transactions",
issn = "0300-5127",
publisher = "Portland Press Ltd",
number = "3",

}

RIS

TY - JOUR

T1 - The role of splicing factors in retinitis pigmentosa

T2 - links to cilia

AU - Maxwell, Dale W

AU - O'Keefe, Raymond T

AU - Roy, Sudipto

AU - Hentges, Kathryn E

N1 - Funding Information: This research was supported by British Heart Foundation Project Grant PG/18/28/33632 to K.E.H. and The Agency for Science, Technology and Research (A*STAR) of Singapore to S.R. D.W.M. was supported by a University of Manchester/A*STAR PhD studentship. Publisher Copyright: © 2021 The Author(s).

PY - 2021/6/30

Y1 - 2021/6/30

N2 - Cilia are critical to numerous biological functions, both in development and everyday homeostatic processes. Diseases arising from genetic mutations that cause cilia dysfunction are termed ciliopathies. Several ubiquitously expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP the disease affects the modified primary cilium of the photoreceptor cells and thus, these types of RP are considered ciliopathies. Here, we discuss sequence variants found within a number of these splicing factors, the resulting phenotypes, and the mechanisms underpinning disease pathology. Additionally, we discuss recent evidence investigating why RP patients with mutations in globally expressed splicing factors present with retina-specific phenotypes.

AB - Cilia are critical to numerous biological functions, both in development and everyday homeostatic processes. Diseases arising from genetic mutations that cause cilia dysfunction are termed ciliopathies. Several ubiquitously expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP the disease affects the modified primary cilium of the photoreceptor cells and thus, these types of RP are considered ciliopathies. Here, we discuss sequence variants found within a number of these splicing factors, the resulting phenotypes, and the mechanisms underpinning disease pathology. Additionally, we discuss recent evidence investigating why RP patients with mutations in globally expressed splicing factors present with retina-specific phenotypes.

U2 - 10.1042/BST20200798

DO - 10.1042/BST20200798

M3 - Review article

C2 - 34060618

VL - 49

SP - 1221

EP - 1231

JO - Biochemical Society. Transactions

JF - Biochemical Society. Transactions

SN - 0300-5127

IS - 3

ER -