Found: 18
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The Role of the Lysosomal Cl − /H + Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
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- Cells (2073-4409), 2022, v. 11, n. 3, p. 366, doi. 10.3390/cells11030366
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- Article
Editorial: Intracellular ion channels in health and disease.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1430150
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- Article
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7‐related osteopetrosis.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 8, p. 1621, doi. 10.1002/jbmr.4322
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- Article
Reduction of Kir4.1 channel activity in an oxidative stress‐related aging model.
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- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.01854
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- Article
Conformational Dynamics of Na<sup>+</sup>/K<sup>+</sup>- and H<sup>+</sup>/K<sup>+</sup>-ATPase Probed by Voltage Clamp Fluorometry.
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- Annals of the New York Academy of Sciences, 2003, v. 986, n. 1, p. 31, doi. 10.1111/j.1749-6632.2003.tb07136.x
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- Article
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2334, doi. 10.1093/brain/awae091
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- Article
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1751, doi. 10.1093/brain/awad427
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3273, doi. 10.1093/brain/awad039
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- Article
TRPM2 Oxidation Activates Two Distinct Potassium Channels in Melanoma Cells through Intracellular Calcium Increase.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8359, doi. 10.3390/ijms22168359
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- Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
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- Article
It's the proton also in ClC-2.
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- Journal of Physiology, 2009, v. 587, n. 7, p. 1379, doi. 10.1113/jphysiol.2009.169623
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- Article
Conversion of the 2 Cl<sup>−</sup>/1 H<sup>+</sup> antiporter ClC-5 in a NO<sub>3</sub><sup>−</sup>/H<sup>+</sup> antiporter by a single point mutation.
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- EMBO Journal, 2009, v. 28, n. 3, p. 175, doi. 10.1038/emboj.2008.284
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- Article
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
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- Human Mutation, 2005, v. 26, n. 4, p. 315, doi. 10.1002/humu.20229
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Altered voltage‐dependence of slowly activating chloride‐proton antiport by late endosomal ClC‐6 explains distinct neurological disorders.
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- Journal of Physiology, 2022, v. 600, n. 9, p. 2147, doi. 10.1113/JP282737
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- Article
A tale of two CLCs: biophysical insights toward understanding ClC-5 and ClC-7 function in endosomes and lysosomes.
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- Journal of Physiology, 2015, v. 593, n. 18, p. 4139, doi. 10.1113/JP270604
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- Article
A single point mutation reveals gating of the human ClC-5 Cl<sup>−</sup>/H<sup>+</sup> antiporter.
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- Journal of Physiology, 2013, v. 591, n. 23, p. 5879, doi. 10.1113/jphysiol.2013.260240
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- Article
Intracellular regulation of human ClC-5 by adenine nucleotides.
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- EMBO Reports, 2009, v. 10, n. 10, p. 1111, doi. 10.1038/embor.2009.159
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- Article
The role of protons in fast and slow gating of the Torpedo chloride channel ClC-0.
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- European Biophysics Journal, 2010, v. 39, n. 6, p. 869, doi. 10.1007/s00249-008-0393-x
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- Article