Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders. / Scheibye-Knudsen, Morten; Fang, Evandro Fei; Croteau, Deborah L.; Bohr, Vilhelm A.

In: Autophagy, Vol. 10, No. 8, 2014, p. 1468-1469.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Scheibye-Knudsen, M, Fang, EF, Croteau, DL & Bohr, VA 2014, 'Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders', Autophagy, vol. 10, no. 8, pp. 1468-1469. https://doi.org/10.4161/auto.29321

APA

Scheibye-Knudsen, M., Fang, E. F., Croteau, D. L., & Bohr, V. A. (2014). Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders. Autophagy, 10(8), 1468-1469. https://doi.org/10.4161/auto.29321

Vancouver

Scheibye-Knudsen M, Fang EF, Croteau DL, Bohr VA. Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders. Autophagy. 2014;10(8):1468-1469. https://doi.org/10.4161/auto.29321

Author

Scheibye-Knudsen, Morten ; Fang, Evandro Fei ; Croteau, Deborah L. ; Bohr, Vilhelm A. / Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders. In: Autophagy. 2014 ; Vol. 10, No. 8. pp. 1468-1469.

Bibtex

@article{de97504b42e74d2d8fb1636008490c2f,
title = "Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders",
abstract = "DNA repair is a prerequisite for life as we know it, and defects in DNA repair lead to accelerated aging. Xeroderma pigmentosum group A (XPA) is a classic DNA repair-deficient disorder with patients displaying sun sensitivity and cancer susceptibility. XPA patients also exhibit neurodegeneration, leading to cerebellar atrophy, neuropathy, and hearing loss, through a mechanism that has remained elusive. Using in silico, in vitro, and in vivo studies, we discovered defective mitophagy in XPA due to PARP1 hyperactivation and NAD + (and thus, SIRT1) depletion. This leads to mitochondrial membrane hyper-polarization, PINK1 cleavage and defective mitophagy. This study underscores the importance of mitophagy in promoting a healthy pool of mitochondria and in preventing neurodegeneration and premature aging.",
keywords = "Autophagy, DNA repair, Mitophagy, SIRT1, Xeroderma pigmentosum group A",
author = "Morten Scheibye-Knudsen and Fang, {Evandro Fei} and Croteau, {Deborah L.} and Bohr, {Vilhelm A.}",
year = "2014",
doi = "10.4161/auto.29321",
language = "English",
volume = "10",
pages = "1468--1469",
journal = "Autophagy",
issn = "1554-8627",
publisher = "Taylor & Francis",
number = "8",

}

RIS

TY - JOUR

T1 - Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders

AU - Scheibye-Knudsen, Morten

AU - Fang, Evandro Fei

AU - Croteau, Deborah L.

AU - Bohr, Vilhelm A.

PY - 2014

Y1 - 2014

N2 - DNA repair is a prerequisite for life as we know it, and defects in DNA repair lead to accelerated aging. Xeroderma pigmentosum group A (XPA) is a classic DNA repair-deficient disorder with patients displaying sun sensitivity and cancer susceptibility. XPA patients also exhibit neurodegeneration, leading to cerebellar atrophy, neuropathy, and hearing loss, through a mechanism that has remained elusive. Using in silico, in vitro, and in vivo studies, we discovered defective mitophagy in XPA due to PARP1 hyperactivation and NAD + (and thus, SIRT1) depletion. This leads to mitochondrial membrane hyper-polarization, PINK1 cleavage and defective mitophagy. This study underscores the importance of mitophagy in promoting a healthy pool of mitochondria and in preventing neurodegeneration and premature aging.

AB - DNA repair is a prerequisite for life as we know it, and defects in DNA repair lead to accelerated aging. Xeroderma pigmentosum group A (XPA) is a classic DNA repair-deficient disorder with patients displaying sun sensitivity and cancer susceptibility. XPA patients also exhibit neurodegeneration, leading to cerebellar atrophy, neuropathy, and hearing loss, through a mechanism that has remained elusive. Using in silico, in vitro, and in vivo studies, we discovered defective mitophagy in XPA due to PARP1 hyperactivation and NAD + (and thus, SIRT1) depletion. This leads to mitochondrial membrane hyper-polarization, PINK1 cleavage and defective mitophagy. This study underscores the importance of mitophagy in promoting a healthy pool of mitochondria and in preventing neurodegeneration and premature aging.

KW - Autophagy

KW - DNA repair

KW - Mitophagy

KW - SIRT1

KW - Xeroderma pigmentosum group A

UR - http://www.scopus.com/inward/record.url?scp=84905908997&partnerID=8YFLogxK

U2 - 10.4161/auto.29321

DO - 10.4161/auto.29321

M3 - Journal article

C2 - 24991831

AN - SCOPUS:84905908997

VL - 10

SP - 1468

EP - 1469

JO - Autophagy

JF - Autophagy

SN - 1554-8627

IS - 8

ER -

ID: 172128406