Cockayne syndrome: Clinical features, model systems and pathways

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Cockayne syndrome : Clinical features, model systems and pathways. / Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L; Bohr, Vilhelm A.

In: Ageing Research Reviews, Vol. 33, 01.2017, p. 3-17.

Research output: Contribution to journalReviewResearchpeer-review

Harvard

Karikkineth, AC, Scheibye-Knudsen, M, Fivenson, E, Croteau, DL & Bohr, VA 2017, 'Cockayne syndrome: Clinical features, model systems and pathways' Ageing Research Reviews, vol. 33, pp. 3-17. https://doi.org/10.1016/j.arr.2016.08.002

APA

Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A. (2017). Cockayne syndrome: Clinical features, model systems and pathways. Ageing Research Reviews, 33, 3-17. https://doi.org/10.1016/j.arr.2016.08.002

Vancouver

Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Cockayne syndrome: Clinical features, model systems and pathways. Ageing Research Reviews. 2017 Jan;33:3-17. https://doi.org/10.1016/j.arr.2016.08.002

Author

Karikkineth, Ajoy C ; Scheibye-Knudsen, Morten ; Fivenson, Elayne ; Croteau, Deborah L ; Bohr, Vilhelm A. / Cockayne syndrome : Clinical features, model systems and pathways. In: Ageing Research Reviews. 2017 ; Vol. 33. pp. 3-17.

Bibtex

@article{01d5c40040f24f258b5427057bf0a8eb,
title = "Cockayne syndrome: Clinical features, model systems and pathways",
abstract = "Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging.",
author = "Karikkineth, {Ajoy C} and Morten Scheibye-Knudsen and Elayne Fivenson and Croteau, {Deborah L} and Bohr, {Vilhelm A}",
note = "Published by Elsevier B.V.",
year = "2017",
month = "1",
doi = "10.1016/j.arr.2016.08.002",
language = "English",
volume = "33",
pages = "3--17",
journal = "Ageing Research Reviews",
issn = "1568-1637",
publisher = "Elsevier Ireland Ltd",

}

RIS

TY - JOUR

T1 - Cockayne syndrome

T2 - Clinical features, model systems and pathways

AU - Karikkineth, Ajoy C

AU - Scheibye-Knudsen, Morten

AU - Fivenson, Elayne

AU - Croteau, Deborah L

AU - Bohr, Vilhelm A

N1 - Published by Elsevier B.V.

PY - 2017/1

Y1 - 2017/1

N2 - Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging.

AB - Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging.

U2 - 10.1016/j.arr.2016.08.002

DO - 10.1016/j.arr.2016.08.002

M3 - Review

VL - 33

SP - 3

EP - 17

JO - Ageing Research Reviews

JF - Ageing Research Reviews

SN - 1568-1637

ER -

ID: 169440253