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AGC1 deficiency associated with global cerebral hypomyelination.
Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. Wibom R, et al. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. N Engl J Med. 2009. PMID: 19641205 Free article.
The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy fo …
The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a …
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A. Pardo B, et al. Int J Mol Sci. 2022 Jan 4;23(1):528. doi: 10.3390/ijms23010528. Int J Mol Sci. 2022. PMID: 35008954 Free PMC article. Review.
However, paradoxically, glial functions such as myelin and Glutamine (Gln) synthesis are markedly impaired in AGC1 deficiency. Herein, we discuss the role of the AGC1/Aralar-MAS pathway in neuronal functions such as Asp and NAA synthesis, lactate use, respiration on …
However, paradoxically, glial functions such as myelin and Glutamine (Gln) synthesis are markedly impaired in AGC1 deficiency. …
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). Rodan LH, et al. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15. Mol Genet Metab. 2018. PMID: 30031689 Free PMC article.
We report 2 patients presenting with a neurometabolic disorder associated with biallelic variants in the MTHFS gene, encoding 5,10-methenyltetrahydrofolate synthetase. Both patients presented with microcephaly, short stature, severe global developmental delay, progr …
We report 2 patients presenting with a neurometabolic disorder associated with biallelic variants in the MTHFS gene, encoding 5,10-me …
Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain.
Ramos M, Pardo B, Llorente-Folch I, Saheki T, Del Arco A, Satrústegui J. Ramos M, et al. J Neurosci Res. 2011 Dec;89(12):2008-17. doi: 10.1002/jnr.22639. Epub 2011 May 23. J Neurosci Res. 2011. PMID: 21608011
The aralar/AGC1 knockout (KO) mouse shows a drastic decrease in brain aspartate and N-acetylaspartate levels and global hypomyelination, which are attributed to the lack of neuron-produced NAA used by oligodendrocytes as precursor of myelin lipid synthesis. . …
The aralar/AGC1 knockout (KO) mouse shows a drastic decrease in brain aspartate and N-acetylaspartate levels and global hyp …
Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.
Profilo E, Peña-Altamira LE, Corricelli M, Castegna A, Danese A, Agrimi G, Petralla S, Giannuzzi G, Porcelli V, Sbano L, Viscomi C, Massenzio F, Palmieri EM, Giorgi C, Fiermonte G, Virgili M, Palmieri L, Zeviani M, Pinton P, Monti B, Palmieri F, Lasorsa FM. Profilo E, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1422-1435. doi: 10.1016/j.bbadis.2017.02.022. Epub 2017 Feb 21. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28235644 Free article.
By sustaining the complete glucose oxidation, AGC1 is thought to be important in providing energy for cells, in particular in the CNS and muscle where this protein is mainly expressed. Defects in the AGC1 gene cause AGC1 deficiency, an infantile encephalopathy with …
By sustaining the complete glucose oxidation, AGC1 is thought to be important in providing energy for cells, in particular in the CNS and mu …
Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.
Gavazzi F, Charsar BA, Williams C, Shults J, Alves CA, Adang L, Vanderver A. Gavazzi F, et al. J Child Neurol. 2021 Sep;36(10):805-811. doi: 10.1177/08830738211000977. J Child Neurol. 2021. PMID: 34514881 Free PMC article.
Mutations in TUBB4A are associated with a spectrum of neurologic disorders categorized as TUBB4A-related leukoencephalopathy. Affected children can present with global developmental delay or normal early development, followed by a variable loss of skills over time. …
Mutations in TUBB4A are associated with a spectrum of neurologic disorders categorized as TUBB4A-related leukoencephalopathy. Affecte …
AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway.
Llorente-Folch I, Sahún I, Contreras L, Casarejos MJ, Grau JM, Saheki T, Mena MA, Satrústegui J, Dierssen M, Pardo B. Llorente-Folch I, et al. J Neurochem. 2013 Feb;124(3):347-62. doi: 10.1111/jnc.12096. J Neurochem. 2013. PMID: 23216354 Free article.
The mitochondrial transporter of aspartate-glutamate Aralar/AGC1 is a regulatory component of the malate-aspartate shuttle. Aralar deficiency in mouse and human causes a shutdown of brain shuttle activity and global cerebral hypomyelination. A lack of …
The mitochondrial transporter of aspartate-glutamate Aralar/AGC1 is a regulatory component of the malate-aspartate shuttle. Aralar deficienc …
Histone Acetylation Defects in Brain Precursor Cells: A Potential Pathogenic Mechanism Causing Proliferation and Differentiation Dysfunctions in Mitochondrial Aspartate-Glutamate Carrier Isoform 1 Deficiency.
Poeta E, Petralla S, Babini G, Renzi B, Celauro L, Magnifico MC, Barile SN, Masotti M, De Chirico F, Massenzio F, Viggiano L, Palmieri L, Virgili M, Lasorsa FM, Monti B. Poeta E, et al. Front Cell Neurosci. 2022 Jan 12;15:773709. doi: 10.3389/fncel.2021.773709. eCollection 2021. Front Cell Neurosci. 2022. PMID: 35095421 Free PMC article.
Mitochondrial aspartate-glutamate carrier isoform 1 (AGC1) deficiency is an ultra-rare genetic disease characterized by global hypomyelination and brain atrophy, caused by mutations in the SLC25A12 gene leading to a reduction in AGC1 activity. . …
Mitochondrial aspartate-glutamate carrier isoform 1 (AGC1) deficiency is an ultra-rare genetic disease characterized by glo …
Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy.
Tochigi Y, Takamatsu Y, Nakane J, Nakai R, Katayama K, Suzuki H. Tochigi Y, et al. Int J Mol Sci. 2019 Jul 23;20(14):3596. doi: 10.3390/ijms20143596. Int J Mol Sci. 2019. PMID: 31340538 Free PMC article.
WW domain-containing oxidoreductase (Wwox) is a putative tumor suppressor. Several germline mutations of Wwox have been associated with infant neurological disorders characterized by epilepsy, growth retardation, and early death. ...These results indicate that Wwox is esse …
WW domain-containing oxidoreductase (Wwox) is a putative tumor suppressor. Several germline mutations of Wwox have been associated wi …
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group; Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Chelban V, et al. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. Am J Hum Genet. 2017. PMID: 28575651 Free PMC article.
Affected members of the third family had a similar but earlier-onset presentation associated with brain hypomyelination. Using a combination of homozygozity mapping and exome sequencing, we mapped this phenotype to deleterious nonsense or homeobox domain miss …
Affected members of the third family had a similar but earlier-onset presentation associated with brain hypomyelination …
14 results