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Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2007, Volume 282, Issue 34, pp. 25041 - 25052
Journal Article
Journal Article
Journal Article
Molecular and cellular biology, ISSN 0270-7306, 01/2004, Volume 24, Issue 2, pp. 527 - 536
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial... 
Index Medicus
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2019, Volume 1865, Issue 11, pp. 165536 - 165536
Mutations in (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial protein with an unknown function, cause mitochondrial DNA depletion... 
Mitochondrial DNA depletion | Mitochondrial fusion | Dichloroacetate | Mitochondria | FBXL4 | Index Medicus
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2017
Abstract Background Likely pathogenic variants in SLC17A5 results in allelic disorders of free sialic acid metabolism including 1) infantile free sialic acid... 
Pediatrics | Neurology
Journal Article
Diabetes, ISSN 0012-1797, 01/2007, Volume 56, Issue 1, pp. 161 - 167
The CCAAT/enhancer-binding protein [beta] (C/EBP[beta]) is required for adipocyte differentiation and maturation. We have studied the role of the transcription... 
Obesity | Genetic aspects | Research | Diabetes
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2017, Volume 120, Issue 4, pp. 306 - 316
Journal Article
Nature Genetics, ISSN 1061-4036, 06/1999, Volume 22, Issue 2, pp. 159 - 163
Journal Article