PMC Articles for MedGen (Select 1802316) - PMC

Select item 58304781.

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

Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons

J Inherit Metab Dis. 2018; 41(2): 169–180. Published online 2017 Dec 13. doi: 10.1007/s10545-017-0106-7

PMCID:: PMC5830478

Article PubReader PDF–2.1M Cite

Select item 36173902.

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Benjamin Nota, Eduard A. Struys, Ana Pop, Erwin E. Jansen, Matilde R. Fernandez Ojeda, Warsha A. Kanhai, Martijn Kranendijk, Silvy J.M. van Dooren, Marianna R. Bevova, Erik A. Sistermans, Aggie W.M. Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Georg F. Hoffmann, Pascale de Lonlay, Marie T. McDonald, Alf Meberg, Ania C. Muntau, Jean-Marc Nuoffer, Rossella Parini, Marie-Hélène Read, Axel Renneberg, René Santer, Thomas Strahleck, Emile van Schaftingen, Marjo S. van der Knaap, Cornelis Jakobs, Gajja S. Salomons

Am J Hum Genet. 2013 Apr 4; 92(4): 627–631. doi: 10.1016/j.ajhg.2013.03.009

PMCID:: PMC3617390

Article PubReader PDF–293K Cite

Select item 70290053.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller

Eur J Hum Genet. 2020 Mar; 28(3): 373–377. Published online 2019 Sep 16. doi: 10.1038/s41431-019-0506-2

PMCID:: PMC7029005

Article PubReader PDF–487K Cite

Select item 61770124.

A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation

Hongde Li, Alexander J. Hurlburt, Jason M. Tennessen

Dis Model Mech. 2018 Sep 1; 11(9): dmm035337. Published online 2018 Sep 21. doi: 10.1242/dmm.035337

PMCID:: PMC6177012

Article PubReader Cite

Select item 72263615.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné

Biomolecules. 2020 Apr; 10(4): 655. Published online 2020 Apr 23. doi: 10.3390/biom10040655

PMCID:: PMC7226361

Article PubReader PDF–2.8M Cite

Select item 33882626.

Progress in understanding 2-hydroxyglutaric acidurias

Martijn Kranendijk, Eduard A. Struys, Gajja S. Salomons, Marjo S. Van der Knaap, Cornelis Jakobs

J Inherit Metab Dis. 2012; 35(4): 571–587. Published online 2012 Mar 6. doi: 10.1007/s10545-012-9462-5

PMCID:: PMC3388262

Article PubReader PDF–508K Cite

Select item 73592817.

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li, Shuizhen Zhou

BMC Neurol. 2020; 20: 278. Published online 2020 Jul 13. doi: 10.1186/s12883-020-01854-6

PMCID:: PMC7359281

Article PubReader PDF–788K Cite

Select item 51104508.

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Amanda Smith, Skye McBride, Julien L. Marcadier, Jean Michaud, Osama Y. Al-Dirbashi, Jeremy Schwartzentruber, Chandree L. Beaulieu, Sherri L. Katz, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Michael T. Geraghty, Mary-Ellen Harper, Pranesh Chakraborty, Matthew A. Lines

JIMD Rep. 2016; 30: 73–79. Published online 2016 Jun 16. doi: 10.1007/8904_2016_536

PMCID:: PMC5110450

Article PubReader PDF–334K Cite

Select item 45012369.

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

Pankaj Prasun, Sarah Young, Gajja Salomons, Andrea Werneke, Yong-hui Jiang, Eduard Struys, Mikell Paige, Maria Laura Avantaggiati, Marie McDonald

JIMD Rep. 2015; 19: 111–115. Published online 2015 Jan 23. doi: 10.1007/8904_2014_378

PMCID:: PMC4501236

Article PubReader PDF–144K Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity