Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression (Q28297203)

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Francesca Zaghetto

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Anamika Singh

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Alexandra Koschak

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Jörg Striessnig

Journal of Neurochemistry

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language of work or name

English

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publication date

March 2006

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published in

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volume

96

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issue

6

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page(s)

1648-58

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cites work

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

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Cav1.4 encodes a calcium channel with low open probability and unitary conductance.

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Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits

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A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

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Calcium channel selectivity for divalent and monovalent cations. Voltage and concentration dependence of single channel current in ventricular heart cells

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Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels

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Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension

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A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness

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Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

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A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

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Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina

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The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution

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Neurotransmitter release at ribbon synapses in the retina

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Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects

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Neurobiology of migraine.

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L-type calcium channels in insulin-secreting cells: biochemical characterization and phosphorylation in RINm5F cells.

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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

21 January 2018

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Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons

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CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics

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Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

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10.1111/J.1471-4159.2006.03678.X

21 January 2018

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release_q7l7f4uq6bbqjazsv5uackcm3q

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https://api.fatcat.wiki/v0/release/q7l7f4uq6bbqjazsv5uackcm3q