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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. / Pop, Ana; Williams, Monique; Struys, Eduard A; Monné, Magnus; Jansen, Erwin E W; De Grassi, Anna; Kanhai, Warsha A; Scarcia, Pasquale; Ojeda, Matilde R Fernandez; Porcelli, Vito; van Dooren, Silvy J M; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E; Coman, David; Das, Anibh Martin; El-Gharbawy, Areeg; Nuoffer, Jean-Marc; Polic, Branka; Santer, René; Weinhold, Natalie; Zuccarelli, Britton; Palmieri, Ferdinando; Palmieri, Luigi; Salomons, Gajja S.

in: J INHERIT METAB DIS, 13.12.2017.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Pop, A, Williams, M, Struys, EA, Monné, M, Jansen, EEW, De Grassi, A, Kanhai, WA, Scarcia, P, Ojeda, MRF, Porcelli, V, van Dooren, SJM, Lennertz, P, Nota, B, Abdenur, JE, Coman, D, Das, AM, El-Gharbawy, A, Nuoffer, J-M, Polic, B, Santer, R, Weinhold, N, Zuccarelli, B, Palmieri, F, Palmieri, L & Salomons, GS 2017, 'An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants', J INHERIT METAB DIS. https://doi.org/10.1007/s10545-017-0106-7

APA

Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., De Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., El-Gharbawy, A., Nuoffer, J-M., Polic, B., ... Salomons, G. S. (2017). An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. J INHERIT METAB DIS. https://doi.org/10.1007/s10545-017-0106-7

Vancouver

Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A et al. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. J INHERIT METAB DIS. 2017 Dez 13. https://doi.org/10.1007/s10545-017-0106-7

Bibtex

@article{cb8fae1a6cb449548f995f555d9a8b6a,
title = "An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants",
abstract = "Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA. We developed and implemented a functional assay and applied it to all 17 missense variants detected in a total of 26 CIC-deficient patients, including eight novel cases, showing reduced activities of varying degrees. In addition, we analyzed the importance of residues affected by these missense variants using our existing scoring system. This allowed not only a clinical and biochemical overview of the D/L-2-HGA patients but also phenotype-genotype correlation studies.",
keywords = "Journal Article",
author = "Ana Pop and Monique Williams and Struys, {Eduard A} and Magnus Monn{\'e} and Jansen, {Erwin E W} and {De Grassi}, Anna and Kanhai, {Warsha A} and Pasquale Scarcia and Ojeda, {Matilde R Fernandez} and Vito Porcelli and {van Dooren}, {Silvy J M} and Pascal Lennertz and Benjamin Nota and Abdenur, {Jose E} and David Coman and Das, {Anibh Martin} and Areeg El-Gharbawy and Jean-Marc Nuoffer and Branka Polic and Ren{\'e} Santer and Natalie Weinhold and Britton Zuccarelli and Ferdinando Palmieri and Luigi Palmieri and Salomons, {Gajja S}",
year = "2017",
month = dec,
day = "13",
doi = "10.1007/s10545-017-0106-7",
language = "English",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",

}

RIS

TY - JOUR

T1 - An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

AU - Pop, Ana

AU - Williams, Monique

AU - Struys, Eduard A

AU - Monné, Magnus

AU - Jansen, Erwin E W

AU - De Grassi, Anna

AU - Kanhai, Warsha A

AU - Scarcia, Pasquale

AU - Ojeda, Matilde R Fernandez

AU - Porcelli, Vito

AU - van Dooren, Silvy J M

AU - Lennertz, Pascal

AU - Nota, Benjamin

AU - Abdenur, Jose E

AU - Coman, David

AU - Das, Anibh Martin

AU - El-Gharbawy, Areeg

AU - Nuoffer, Jean-Marc

AU - Polic, Branka

AU - Santer, René

AU - Weinhold, Natalie

AU - Zuccarelli, Britton

AU - Palmieri, Ferdinando

AU - Palmieri, Luigi

AU - Salomons, Gajja S

PY - 2017/12/13

Y1 - 2017/12/13

N2 - Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA. We developed and implemented a functional assay and applied it to all 17 missense variants detected in a total of 26 CIC-deficient patients, including eight novel cases, showing reduced activities of varying degrees. In addition, we analyzed the importance of residues affected by these missense variants using our existing scoring system. This allowed not only a clinical and biochemical overview of the D/L-2-HGA patients but also phenotype-genotype correlation studies.

AB - Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA. We developed and implemented a functional assay and applied it to all 17 missense variants detected in a total of 26 CIC-deficient patients, including eight novel cases, showing reduced activities of varying degrees. In addition, we analyzed the importance of residues affected by these missense variants using our existing scoring system. This allowed not only a clinical and biochemical overview of the D/L-2-HGA patients but also phenotype-genotype correlation studies.

KW - Journal Article

U2 - 10.1007/s10545-017-0106-7

DO - 10.1007/s10545-017-0106-7

M3 - SCORING: Journal article

C2 - 29238895

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

ER -