LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity

Arnaud Besse; Daniel Brezavar; Jennifer Hanson; Austin Larson; Penelope E. Bonnen

doi:10.1016/j.mito.2020.01.004

LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity

Arnaud Besse
, Daniel Brezavar
, Jennifer Hanson
, Austin Larson
, Penelope E. Bonnen

Baylor College of Medicine
University of Colorado Anschutz Medical Campus

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

Original language	English
Pages (from-to)	68-78
Number of pages	11
Journal	Mitochondrion
Volume	51
DOIs	https://doi.org/10.1016/j.mito.2020.01.004
State	Published - Mar 2020
Externally published	Yes

ASJC Scopus Subject Areas

Molecular Medicine
Molecular Biology
Cell Biology

Keywords

Chaperone
Encephalopathy
LONP1
Mitochondria
Oxidative phosphorylation
Protease
Seizures

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10.1016/j.mito.2020.01.004

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title = "LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity",

keywords = "Chaperone, Encephalopathy, LONP1, Mitochondria, Oxidative phosphorylation, Protease, Seizures",

author = "Arnaud Besse and Daniel Brezavar and Jennifer Hanson and Austin Larson and Bonnen, \{Penelope E.\}",

note = "Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = mar,

doi = "10.1016/j.mito.2020.01.004",

language = "English",

volume = "51",

pages = "68--78",

journal = "Mitochondrion",

issn = "1567-7249",

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TY - JOUR

T1 - LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity

AU - Besse, Arnaud

AU - Brezavar, Daniel

AU - Hanson, Jennifer

AU - Larson, Austin

AU - Bonnen, Penelope E.

PY - 2020/3

Y1 - 2020/3

KW - Chaperone

KW - Encephalopathy

KW - LONP1

KW - Mitochondria

KW - Oxidative phosphorylation

KW - Protease

KW - Seizures

UR - https://www.scopus.com/pages/publications/85077746563

UR - https://www.scopus.com/pages/publications/85077746563#tab=citedBy

U2 - 10.1016/j.mito.2020.01.004

DO - 10.1016/j.mito.2020.01.004

M3 - Article

C2 - 31923470

AN - SCOPUS:85077746563

SN - 1567-7249

VL - 51

SP - 68

EP - 78

JO - Mitochondrion

JF - Mitochondrion

ER -

LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity

ASJC Scopus Subject Areas

Keywords

Access to Document

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