Research & Literature

Association between genetic variants related to glutamatergic, dopaminergic and neurodevelopment pathways and white matter microstructure in child and adolescent patients with obsessive-compulsive disorder.

Gassó P, Ortiz AE, Mas S, et al.

Journal of affective disorders 2015; (186()):284-92.

Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.

Nagamori S, Wiriyasermkul P, Guarch ME, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(3)):775-80 doi:10.1073/pnas.1519959113.

Dicarboxylic Acid Excretion in Normal Formula-Fed and Breastfed Infants.

Anderson M, Eliot K, Kelly P, Shoemaker J

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2016; (31(6)):819-823 doi:10.1177/0884533616648330.

EAAT3 promotes amino acid transport and proliferation of porcine intestinal epithelial cells.

Ye JL, Gao CQ, Li XG, et al.

Oncotarget 2016; (7(25)):38681-38692 doi:10.18632/oncotarget.9583.

OCD candidate gene SLC1A1/EAAT3 impacts basal ganglia-mediated activity and stereotypic behavior.

Zike ID, Chohan MO, Kopelman JM, et al.

Proceedings of the National Academy of Sciences of the United States of America 2017; (114(22)):5719-5724 doi:10.1073/pnas.1701736114.

Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate.

Burckhardt BC, Burckhardt G

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2017; (43(5)):1907-1916 doi:10.1159/000484110.

Genetic and pharmacogenetic study of glutamate transporter (SLC1A1) in Iranian patients with obsessive-compulsive disorder.

Abdolhosseinzadeh S, Sina M, Ahmadiani A, et al.

Journal of clinical pharmacy and therapeutics 2019; (44(1)):39-48 doi:10.1111/jcpt.12766.

Transcranial direct current stimulation for the treatment of obsessive-compulsive disorder? A qualitative review of safety and efficacy.

Rachid F

Psychiatry research 2019; (271()):259-264 doi:10.1016/j.psychres.2018.11.033.

Amino Acid Transport Across the Mammalian Intestine.

Bröer S, Fairweather SJ

Comprehensive Physiology 2018; (9(1)):343-373 doi:10.1002/cphy.c170041.

Behavioral and synaptic alterations relevant to obsessive-compulsive disorder in mice with increased EAAT3 expression.

Delgado-Acevedo C, Estay SF, Radke AK, et al.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2019; (44(6)):1163-1173 doi:10.1038/s41386-018-0302-7.

Fatty acid oxidation disorders.

Merritt JL, Norris M, Kanungo S

Annals of translational medicine 2018; (6(24)):473 doi:10.21037/atm.2018.10.57.

A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

Lee T, Takami Y, Yamada K, et al.

JIMD reports 2019; (48(1)):19-25 doi:10.1002/jmd2.12051.

The Neuronal Glutamate Transporter EAAT3 in Obsessive-Compulsive Disorder.

Escobar AP, Wendland JR, Chávez AE, Moya PR

Frontiers in pharmacology 2019; (10()):1362 doi:10.3389/fphar.2019.01362.

Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report.

Lenain R, Hamroun A, Lion G, et al.

Medicine 2019; (98(52)):e18478 doi:10.1097/MD.0000000000018478.

PKN1 promotes synapse maturation by inhibiting mGluR-dependent silencing through neuronal glutamate transporter activation.

Yasuda H, Yamamoto H, Hanamura K, et al.

Communications biology 2020; (3(1)):710 doi:10.1038/s42003-020-01435-w.

Association Between the SLC1A1 Glutamate Transporter Gene and Obsessive-Compulsive Disorder in the Chinese Han Population.

Huang X, Liu J, Cong J, Zhang X

Neuropsychiatric disease and treatment 2021; (17()):347-354 doi:10.2147/NDT.S281623.

Genetics of obsessive-compulsive disorder.

Mahjani B, Bey K, Boberg J, Burton C

Psychological medicine 2021; (51(13)):2247-2259 doi:10.1017/S0033291721001744.

[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].

Bu XX, Qiu WJ, Zhang HW, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(6)):522-526 doi:10.3760/cma.j.cn112140-20220117-00056.

Identification of Urine Organic Acids for the Detection of Inborn Errors of Metabolism Using Urease and Gas Chromatography-Mass Spectrometry (GC/MS).

Lo SF, Pierzchalski K, Young V, Rhead WJ

Methods in molecular biology (Clifton, N.J.) 2022; (2546()):335-350 doi:10.1007/978-1-0716-2565-1_30.

Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry.

Du J, Dou LM, Jin YH, et al.

Frontiers in pediatrics 2022; (10()):999596 doi:10.3389/fped.2022.999596.

The biochemistry and physiology of long-chain dicarboxylic acid metabolism.

Ranea-Robles P, Houten SM

The Biochemical journal 2023; (480(9)):607-627 doi:10.1042/BCJ20230041.

Symport and antiport mechanisms of human glutamate transporters.

Qiu B, Boudker O

Nature communications 2023; (14(1)):2579 doi:10.1038/s41467-023-38120-5.

Aspartic Acid in Health and Disease.

Holeček M

Nutrients 2023; (15(18)) doi:10.3390/nu15184023.

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.

Hanafusa H, Nakamura K, Kamijo Y, et al.

JIMD reports 2023; (64(6)):410-416 doi:10.1002/jmd2.12392.

Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.

Guo F, Zhou L, Zhang F, et al.

Orphanet journal of rare diseases 2024; (19(1)):145 doi:10.1186/s13023-024-03138-5.

Hereditary Patterns and Genetic Associations in Obsessive-Compulsive Disorder (OCD): Neuropsychiatric Insights, Genetic Influences, and Treatment Perspectives.

Dhiman A, Mehan S, Khan Z, et al.

Current gene therapy 2025; (25(3)):257-316 doi:10.2174/0115665232316708240828063527.

Mitochondrial HMG-CoA synthase deficiency.

Decru B, Lys M, Truijens K, et al.

Molecular genetics and metabolism 2025; (144(1)):109007 doi:10.1016/j.ymgme.2024.109007.

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.

Nguyen KN, Dien TM, Can TBN, et al.

International journal of molecular sciences 2025; (26(4)) doi:10.3390/ijms26041644.

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.

Vaseenon H, Tim-Aroon T, Saengow VE, et al.

JIMD reports 2025; (66(4)):e70028 doi:10.1002/jmd2.70028.

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Ajayi JA, Ananias EN, Issa-Lawal M, et al.

Current research in physiology 2025; (8()):100168 doi:10.1016/j.crphys.2025.100168.