Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Johannes Koch; René Feichtinger; Peter Freisinger; Mechthild Pies; Falk Schrödl; Arcangela Iuso; Wolfgang Sperl; Johannes A. Mayr; Holger Prokisch; Tobias B Haack

doi:10.1136/jmedgenet-2015-103500

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Johannes Koch (First author)
, René Feichtinger (Co-author)
, Peter Freisinger
, Mechthild Pies
, Falk Schrödl (Co-author)
, Arcangela Iuso
, Wolfgang Sperl (Co-author)
, Johannes A. Mayr (Co-author)
, Holger Prokisch
, Tobias B Haack

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

96 Citations (Web of Science)

Original language	English
Pages (from-to)	270-278
Journal	JOURNAL OF MEDICAL GENETICS
Volume	53
Issue number	4
DOIs	https://doi.org/10.1136/jmedgenet-2015-103500
Publication status	Published - 2016

Keywords

RESPIRATORY-CHAIN DEFICIENCIES
OXIDATIVE-PHOSPHORYLATION
MAMMALIAN-CELLS
FISSION FACTOR
WHITE-MATTER
MUTATIONS
DRP1
RECRUITMENT
METABOLISM
PROTEINS

Access to Document

10.1136/jmedgenet-2015-103500

Mitochondriopathy – Network for diagnostics and therapy (GENOMIT)
Sperl, W. (PI)
1/02/12 → 1/02/15
Project: Research

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Koch, J., Feichtinger, R., Freisinger, P., Pies, M., Schrödl, F., Iuso, A., Sperl, W., Mayr, J. A., Prokisch, H., & Haack, T. B. (2016). Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. JOURNAL OF MEDICAL GENETICS , 53(4), 270-278. https://doi.org/10.1136/jmedgenet-2015-103500

Koch, Johannes ; Feichtinger, René ; Freisinger, Peter et al. / Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. In: JOURNAL OF MEDICAL GENETICS 2016 ; Vol. 53, No. 4. pp. 270-278.

@article{647edd911ab5465c8cd57b32f1c43b9b,

title = "Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.",

keywords = "RESPIRATORY-CHAIN DEFICIENCIES, OXIDATIVE-PHOSPHORYLATION, MAMMALIAN-CELLS, FISSION FACTOR, WHITE-MATTER, MUTATIONS, DRP1, RECRUITMENT, METABOLISM, PROTEINS",

author = "Johannes Koch and Ren{\'e} Feichtinger and Peter Freisinger and Mechthild Pies and Falk Schr{\"o}dl and Arcangela Iuso and Wolfgang Sperl and Mayr, \{Johannes A.\} and Holger Prokisch and Haack, \{Tobias B\}",

note = "Koch, Feichtinger, Sperl, Mayr: Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria; Schr{\"o}dl: Department of Ophthalmology and Optometry, Department of Anatomy, Department of Laboratory Medicine (HW), and First Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria ",

year = "2016",

doi = "10.1136/jmedgenet-2015-103500",

language = "English",

volume = "53",

pages = "270--278",

journal = "JOURNAL OF MEDICAL GENETICS ",

issn = "0022-2593",

number = "4",

}

Koch, J , Feichtinger, R, Freisinger, P, Pies, M, Schrödl, F, Iuso, A, Sperl, W , Mayr, JA, Prokisch, H & Haack, TB 2016, 'Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.', JOURNAL OF MEDICAL GENETICS , vol. 53, no. 4, pp. 270-278. https://doi.org/10.1136/jmedgenet-2015-103500

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. / Koch, Johannes (First author); Feichtinger, René (Co-author); Freisinger, Peter et al.
In: JOURNAL OF MEDICAL GENETICS , Vol. 53, No. 4, 2016, p. 270-278.

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

TY - JOUR

T1 - Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

AU - Koch, Johannes

AU - Feichtinger, René

AU - Freisinger, Peter

AU - Pies, Mechthild

AU - Schrödl, Falk

AU - Iuso, Arcangela

AU - Sperl, Wolfgang

AU - Mayr, Johannes A.

AU - Prokisch, Holger

AU - Haack, Tobias B

N1 - Koch, Feichtinger, Sperl, Mayr: Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria; Schrödl: Department of Ophthalmology and Optometry, Department of Anatomy, Department of Laboratory Medicine (HW), and First Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria

PY - 2016

Y1 - 2016

KW - RESPIRATORY-CHAIN DEFICIENCIES

KW - OXIDATIVE-PHOSPHORYLATION

KW - MAMMALIAN-CELLS

KW - FISSION FACTOR

KW - WHITE-MATTER

KW - MUTATIONS

KW - DRP1

KW - RECRUITMENT

KW - METABOLISM

KW - PROTEINS

U2 - 10.1136/jmedgenet-2015-103500

DO - 10.1136/jmedgenet-2015-103500

M3 - Original Article

C2 - 26783368

SN - 0022-2593

VL - 53

SP - 270

EP - 278

JO - JOURNAL OF MEDICAL GENETICS

JF - JOURNAL OF MEDICAL GENETICS

IS - 4

ER -

Koch J , Feichtinger R, Freisinger P, Pies M, Schrödl F, Iuso A et al. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. JOURNAL OF MEDICAL GENETICS . 2016;53(4):270-278. doi: 10.1136/jmedgenet-2015-103500

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Keywords

Access to Document

Projects

Mitochondriopathy – Network for diagnostics and therapy (GENOMIT)

Cite this