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Page 1
Functional and molecular studies in primary carnitine deficiency.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N. Frigeni M, et al. Hum Mutat. 2017 Dec;38(12):1684-1699. doi: 10.1002/humu.23315. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28841266 Free PMC article.
Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 gene. ...These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the …
Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 …
Carnitine transport and fatty acid oxidation.
Longo N, Frigeni M, Pasquali M. Longo N, et al. Biochim Biophys Acta. 2016 Oct;1863(10):2422-35. doi: 10.1016/j.bbamcr.2016.01.023. Epub 2016 Jan 29. Biochim Biophys Acta. 2016. PMID: 26828774 Free PMC article. Review.
Defects in the OCTN2 carnitine transporter results in autosomal recessive primary carnitine deficiency characterized by decreased intracellular carnitine accumulation, increased losses of carnitine in the urine, and low serum carnitine …
Defects in the OCTN2 carnitine transporter results in autosomal recessive primary carnitine deficiency character …
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML, McInnes G, Brown JEH, Thomas N, Hutchinson K, Chin MY, Koehl A, Arkin MR, Schlessinger A, Gallagher RC, Song YS, Altman RB, Giacomini KM. Koleske ML, et al. Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2210247119. doi: 10.1073/pnas.2210247119. Epub 2022 Nov 7. Proc Natl Acad Sci U S A. 2022. PMID: 36343260 Free PMC article.
Genetic variants in SLC22A5, encoding the membrane carnitine transporter OCTN2, cause the rare metabolic disorder Carnitine Transporter Deficiency (CTD). ...Uptake assays with (14)C-carnitine revealed that 105 variants (70%) significantly …
Genetic variants in SLC22A5, encoding the membrane carnitine transporter OCTN2, cause the rare metabolic disorder Ca …
Carnitine traffic and human fertility.
Mazza T, Scalise M, Console L, Galluccio M, Giangregorio N, Tonazzi A, Pochini L, Indiveri C. Mazza T, et al. Biochem Pharmacol. 2024 Dec;230(Pt 1):116565. doi: 10.1016/j.bcp.2024.116565. Epub 2024 Oct 3. Biochem Pharmacol. 2024. PMID: 39368751 Free article. Review.
OCTN2 dysfunction, results in Primary Carnitine Deficiency (PCD), characterized by systemic carnitine depletion and severe clinical manifestations, including fertility issues. ...Indeed, deficiencies in carnitine or its transporters have …
OCTN2 dysfunction, results in Primary Carnitine Deficiency (PCD), characterized by systemic carnitine depletion …
Involvement of impaired carnitine-induced fatty acid oxidation in experimental and human diabetic kidney disease.
Ito S, Taguchi K, Kodama G, Kubo S, Moriyama T, Yamashita Y, Yokota Y, Nakayama Y, Kaida Y, Shinohara M, Tashiro K, Ohta K, Yamagishi SI, Fukami K. Ito S, et al. JCI Insight. 2025 May 22;10(13):e179362. doi: 10.1172/jci.insight.179362. eCollection 2025 Jul 8. JCI Insight. 2025. PMID: 40402578 Free PMC article. Clinical Trial.
Kidney tubular cells have a high energy demand, dependent on fatty acid oxidation (FAO). Although carnitine is indispensable for FAO, the pathological role of carnitine deficiency in DKD is not fully understood. We showed here that ectopic lipid accumulation …
Kidney tubular cells have a high energy demand, dependent on fatty acid oxidation (FAO). Although carnitine is indispensable for FAO, …
Carnitine.
Odle J, Adams SH, Vockley J. Odle J, et al. Adv Nutr. 2014 May 14;5(3):289-90. doi: 10.3945/an.113.005199. Print 2014 May. Adv Nutr. 2014. PMID: 24829475 Free PMC article. No abstract available.
The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation.
Galluccio M, Tripicchio M, Pochini L. Galluccio M, et al. Int J Mol Sci. 2024 Aug 10;25(16):8743. doi: 10.3390/ijms25168743. Int J Mol Sci. 2024. PMID: 39201429 Free PMC article. Review.
OCTN1 and OCTN2 are membrane transport proteins encoded by the SLC22A4 and SLC22A5 genes, respectively. ...Due to their involvement in human pathologies, such as inflammatory-based diseases (OCTN1/2), systemic primary carnitine deficiency (OCTN2 …
OCTN1 and OCTN2 are membrane transport proteins encoded by the SLC22A4 and SLC22A5 genes, respectively. ...Due to their involv …
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW. Almannai M, et al. Molecules. 2019 Sep 6;24(18):3251. doi: 10.3390/molecules24183251. Molecules. 2019. PMID: 31500110 Free PMC article. Review.
OCTN2 (organic cation/carnitine transporter novel type 2) transports carnitine into the cells. ...At the end, we discuss some of the causes of secondary carnitine deficiency....
OCTN2 (organic cation/carnitine transporter novel type 2) transports carnitine into the cells. ...At the end, we discus …
Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation.
Jakoby M 4th, Jaju A, Marsh A, Wilber A. Jakoby M 4th, et al. J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211019543. doi: 10.1177/23247096211019543. J Investig Med High Impact Case Rep. 2021. PMID: 34032155 Free PMC article.
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 (SLC22A5) gene that encodes a high-affinity sodium-ion-dependent …
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solut …
Cardiomyopathy and carnitine deficiency.
Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Amat di San Filippo C, et al. Mol Genet Metab. 2008 Jun;94(2):162-6. doi: 10.1016/j.ymgme.2008.02.002. Epub 2008 Mar 11. Mol Genet Metab. 2008. PMID: 18337137 Free PMC article.
A defect in the high-affinity carnitine transporter OCTN2 causes autosomal recessive primary carnitine deficiency that can present with hypoketotic hypoglycemia, mainly in infancy or cardiomyopathy. ...This study tested whether heterozygosity for prima …
A defect in the high-affinity carnitine transporter OCTN2 causes autosomal recessive primary carnitine deficiency …
162 results