A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism

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A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism is …
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scholarly articleQ13442814

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P356DOI10.1074/JBC.M116.728824
P932PMC publication ID4933227
P698PubMed publication ID27129268

P2093author name stringPaul P M Schnetkamp
Tatiana P Rogasevskaia
Ali H Jalloul
Robert T Szerencsei
P2860cites workSodium-calcium exchangers in rat ameloblastsQ43179283
Signal sequence cleavage and plasma membrane targeting of the retinal rod NCKX1 and cone NCKX2 Na+/Ca2+ - K+ exchangers.Q44537533
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinismQ45345288
Molecular characterization, functional expression and tissue distribution of a second NCKX Na+/Ca2+ -K+ exchanger from DrosophilaQ47072652
Gene-gene interactions contribute to eye colour variation in humansQ50279011
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French GuianaQ57952510
Na+-Ca2+ exchange in bovine rod outer segments requires and transports K+Q69214903
Calbindin28kDa and Calmodulin are Hyperabundant in Rat Dental Enamel Cells. Identification of the Protein Phosphatase Calcineurin as a Principal Calmodulin Target and of a Secretion-Related Role for Calbindin28kDaQ71845697
Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfectaQ87303049
SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesisQ24305304
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomesQ24311444
STIM1 and SLC24A4 Are Critical for Enamel MaturationQ24338993
A genomewide association study of skin pigmentation in a South Asian populationQ24648719
Structural insight into the ion-exchange mechanism of the sodium/calcium exchangerQ27677186
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autismQ28117072
Genetic determinants of hair, eye and skin pigmentation in EuropeansQ28254206
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humansQ28287208
The Na(+)/Ca(2+) exchanger NCKX4 governs termination and adaptation of the mammalian olfactory responseQ28512144
Electrophysiological characterization and ionic stoichiometry of the rat brain K(+)-dependent NA(+)/CA(2+) exchanger, NCKX2Q28572723
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaQ28586451
Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4Q28594139
An essential role for the K+-dependent Na+/Ca2+-exchanger, NCKX4, in melanocortin-4-receptor-dependent satiety.Q30403050
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunityQ33384395
Calcium transport across the dental enamel epitheliumQ34116015
Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs.Q34190438
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutationQ34450495
Na+/Ca2+ exchangers: three mammalian gene families control Ca2+ transport.Q34654785
Expression of the sodium/calcium/potassium exchanger, NCKX4, in ameloblastsQ36502611
New paradigms on the transport functions of maturation-stage ameloblasts.Q36534918
Mutation of a NCKX eliminates glial microdomain calcium oscillations and enhances seizure susceptibilityQ36694046
The SLC24 gene family of Na⁺/Ca²⁺-K⁺ exchangers: from sight and smell to memory consolidation and skin pigmentationQ38090784
The SLC24 family of K⁺-dependent Na⁺-Ca²⁺ exchangers: structure-function relationshipsQ38205555
The topology of the C-terminal sections of the NCX1 Na (+) /Ca ( 2+) exchanger and the NCKX2 Na (+) /Ca ( 2+) -K (+) exchangerQ39178419
Residues contributing to the Na(+)-binding pocket of the SLC24 Na(+)/Ca(2+)-K(+) Exchanger NCKX2.Q39727450
Na+-dependent inactivation of the retinal cone/brain Na+/Ca2+-K+ exchanger NCKX2.Q40197415
Cation dependencies and turnover rates of the human K⁺-dependent Na⁺-Ca²⁺ exchangers NCKX1, NCKX2, NCKX3 and NCKX4.Q40248143
Residues contributing to the Ca2+ and K+ binding pocket of the NCKX2 Na+/Ca2+-K+ exchangerQ40483880
Topology of the retinal cone NCKX2 Na/Ca-K exchanger.Q40668837
Scanning mutagenesis of the alpha repeats and of the transmembrane acidic residues of the human retinal cone Na/Ca-K exchangerQ40678196
Stoichiometry of the retinal cone Na/Ca-K exchanger heterologously expressed in insect cells: comparison with the bovine heart Na/Ca exchangerQ40806243
P4510describes a project that usesImageJQ1659584
P433issue25
P407language of work or nameEnglishQ1860
P921main subjectamelogenesis imperfectaQ461854
P304page(s)13113-13123
P577publication date2016-04-25
P1433published inJournal of Biological ChemistryQ867727
P1476titleA Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism
P478volume291

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cites work (P2860)
Q38686305A functional approach to understanding the role of NCKX5 in Xenopus pigmentation.
Q91733407Correlations Between Single Nucleotide Polymorphisms, Cognitive Dysfunction, and Postmortem Brain Pathology in Alzheimer's Disease Among Han Chinese
Q93221684Membrane transport proteins in melanosomes: Regulation of ions for pigmentation
Q33716169Multiple Calcium Export Exchangers and Pumps Are a Prominent Feature of Enamel Organ Cells

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