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Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
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- Journal of Neurochemistry, 2006, v. 97, n. 3, p. 899, doi. 10.1111/j.1471-4159.2006.03813.x
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- Article
LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis.
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- Parasites & Vectors, 2016, v. 9, p. 1, doi. 10.1186/s13071-015-1284-5
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- Article
Increased Glutamate Receptor and Transporter Expression in the Cerebral Cortex and Striatum of <i>Gcdh</i><sup>-/-</sup> Mice: Possible Implications for the Neuropathology of Glutaric Acidemia Type I.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090477
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- Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
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- 2020
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- Correction Notice
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
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- Article
Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 157, doi. 10.1093/brain/awq269
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- Article
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2500, doi. 10.1002/ajmg.a.38333
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- Article
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
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- Annals of Neurology, 2004, v. 55, n. 1, p. 7
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- Article
Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
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- Epilepsia (Series 4), 2017, v. 58, n. 10, p. 1771, doi. 10.1111/epi.13862
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- Article
Biochemical, pathologic and behavioralanalysis of a mouse model of glutaric acidemia type I.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 347, doi. 10.1093/hmg/11.4.347
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- Article
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 743, doi. 10.1093/hmg/8.5.743
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- Article
The mitochondrial ABC transporter Atm1p functions as a homodimer
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- FEBS Letters, 2004, v. 569, n. 1-3, p. 65, doi. 10.1016/j.febslet.2004.05.051
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- Article
Genomic organization of ATOX1, a human copper chaperone.
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- BMC Genetics, 2003, v. 4, p. 4, doi. 10.1186/1471-2156-4-4
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- Article