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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200
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- Article
Phospholipid scrambling by a TMEM16 homolog of Arabidopsis thaliana.
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- FEBS Journal, 2022, v. 289, n. 9, p. 2578, doi. 10.1111/febs.16279
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- Article
A Novel Polymorphic AP-1 Binding Element of the GFAP Promoter is Associated with Different Allelic Transcriptional Activities.
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- Annals of Human Genetics, 2010, v. 74, n. 6, p. 506, doi. 10.1111/j.1469-1809.2010.00614.x
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- Article
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.
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- Cellular & Molecular Life Sciences, 2018, v. 75, n. 9, p. 1657, doi. 10.1007/s00018-017-2704-9
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- Article
The signaling lipid phosphatidylinositol-3,5-bisphosphate targets plant CLC-a anion/H<sup>+</sup> exchange activity.
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- EMBO Reports, 2017, v. 18, n. 7, p. 1100, doi. 10.15252/embr.201643814
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- Article
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.723218
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- Article
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
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- Human Mutation, 2020, v. 41, n. 6, p. 1157, doi. 10.1002/humu.24006
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- Article
Structural and functional differences in <italic>PHOX2B</italic> frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
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- Human Mutation, 2018, v. 39, n. 2, p. 219, doi. 10.1002/humu.23365
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- Article
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
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- Journal of Molecular Medicine, 2012, v. 90, n. 9, p. 1025, doi. 10.1007/s00109-012-0868-1
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- Article