Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Saara Tegelberg, Nikica Tomasic, Jukka Kallijärvi, Janne Purhonen, Eskil Elmer, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
Artikelnummer73
TidskriftOrphanet journal of rare diseases
Volym12
Antal sidor14
ISSN1750-1172
DOI
StatusPublicerad - 20 apr 2017
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper
  • 1184 Genetik, utvecklingsbiologi, fysiologi

Citera det här

Tegelberg, Saara ; Tomasic, Nikica ; Kallijärvi, Jukka ; Purhonen, Janne ; Elmer, Eskil ; Lindberg, Eva ; Nord, David Gisselsson ; Soller, Maria ; Lesko, Nicole ; Wedell, Anna ; Bruhn, Helene ; Freyer, Christoph ; Stranneheim, Henrik ; Wibom, Rolf ; Nennesmo, Inger ; Wredenberg, Anna ; Eklund, Erik A. ; Fellman, Vineta. / Respiratory chain complex III deficiency due to mutated BCS1L : a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. I: Orphanet journal of rare diseases. 2017 ; Vol. 12.
@article{c83dfc0405814dc39fbbeaa6d5620736,
title = "Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model",
keywords = "Mitochondrial disorder, Respiratory chain, Respirometry, Assembly factors, Blue native gel electrophoresis, Encephalopathy, Hepatopathy, Microglia, Barrel cortex, LETHAL METABOLIC-DISORDER, FETAL-GROWTH-RETARDATION, IRON-OVERLOAD, GRACILE SYNDROME, MITOCHONDRIAL DISEASE, SUBVENTRICULAR ZONE, LACTIC-ACIDOSIS, NEUROPATHOLOGY, NEUROGENESIS, MUTATIONS, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "Saara Tegelberg and Nikica Tomasic and Jukka Kallij{\"a}rvi and Janne Purhonen and Eskil Elmer and Eva Lindberg and Nord, {David Gisselsson} and Maria Soller and Nicole Lesko and Anna Wedell and Helene Bruhn and Christoph Freyer and Henrik Stranneheim and Rolf Wibom and Inger Nennesmo and Anna Wredenberg and Eklund, {Erik A.} and Vineta Fellman",
year = "2017",
month = "4",
day = "20",
doi = "10.1186/s13023-017-0624-2",
language = "English",
volume = "12",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BMC",

}

Tegelberg, S, Tomasic, N, Kallijärvi, J, Purhonen, J, Elmer, E, Lindberg, E, Nord, DG, Soller, M, Lesko, N, Wedell, A, Bruhn, H, Freyer, C, Stranneheim, H, Wibom, R, Nennesmo, I, Wredenberg, A, Eklund, EA & Fellman, V 2017, 'Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model' Orphanet journal of rare diseases, vol. 12, 73. https://doi.org/10.1186/s13023-017-0624-2

Respiratory chain complex III deficiency due to mutated BCS1L : a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. / Tegelberg, Saara; Tomasic, Nikica; Kallijärvi, Jukka; Purhonen, Janne; Elmer, Eskil; Lindberg, Eva; Nord, David Gisselsson; Soller, Maria; Lesko, Nicole; Wedell, Anna; Bruhn, Helene; Freyer, Christoph; Stranneheim, Henrik; Wibom, Rolf; Nennesmo, Inger; Wredenberg, Anna; Eklund, Erik A.; Fellman, Vineta.

I: Orphanet journal of rare diseases, Vol. 12, 73, 20.04.2017.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Respiratory chain complex III deficiency due to mutated BCS1L

T2 - a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

AU - Tegelberg, Saara

AU - Tomasic, Nikica

AU - Kallijärvi, Jukka

AU - Purhonen, Janne

AU - Elmer, Eskil

AU - Lindberg, Eva

AU - Nord, David Gisselsson

AU - Soller, Maria

AU - Lesko, Nicole

AU - Wedell, Anna

AU - Bruhn, Helene

AU - Freyer, Christoph

AU - Stranneheim, Henrik

AU - Wibom, Rolf

AU - Nennesmo, Inger

AU - Wredenberg, Anna

AU - Eklund, Erik A.

AU - Fellman, Vineta

PY - 2017/4/20

Y1 - 2017/4/20

KW - Mitochondrial disorder

KW - Respiratory chain

KW - Respirometry

KW - Assembly factors

KW - Blue native gel electrophoresis

KW - Encephalopathy

KW - Hepatopathy

KW - Microglia

KW - Barrel cortex

KW - LETHAL METABOLIC-DISORDER

KW - FETAL-GROWTH-RETARDATION

KW - IRON-OVERLOAD

KW - GRACILE SYNDROME

KW - MITOCHONDRIAL DISEASE

KW - SUBVENTRICULAR ZONE

KW - LACTIC-ACIDOSIS

KW - NEUROPATHOLOGY

KW - NEUROGENESIS

KW - MUTATIONS

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1186/s13023-017-0624-2

DO - 10.1186/s13023-017-0624-2

M3 - Article

VL - 12

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

SN - 1750-1172

M1 - 73

ER -