Keywords: HPA; hyperphenylalaninemia; PAH; phenylalanine hydroxylase; BH4; tetrahydrobiopterin; NGS; next generation sequencing; MLPA; multiplex ligation-dependent probe amplification; qRT-PCR; quantitative real-time PCR; APV; allelic phenotype values; GPV; genotyp
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Keywords: [Ca2Â +]i; free cytosolic [Ca2Â +]; CSQ1; calsequestrin 1; COX1; cytochrome c oxidase subunit 1; CS; citrate synthase; Ctrl; control; DHPR; dihydropyridine receptor; EDL; extensor digitorum longus; Nit; nitrate; P/O; oxidative phosphorylation efficiency;
Keywords: EDL; extensor digitorum longus; ER; endoplasmic reticulum; ERAD; endoplasmic reticulum-associated degradation; DHPR; dihydropyridine receptor; HHATL; hedgehog acyltransferase-like; IP3R; inositol trisphosphate receptor; JP; junctophilin; LC-MS/MS; liqui
Keywords: AAV; adeno-associated virus; ACMG; American College of Medical Genetics and Genomics; AHRQ; Agency for Healthcare Research and Quality; BH4; tetrahydrobiopterin; BMD; bone mineral density; CDE; Common Data Element; CHD; congenital heart disease; CNS; cent
Keywords: CALQ1; calsequestrin-1; Cav-3; caveolin-3; DHPR; dihydropyridine receptor; DMD; Duchenne muscular dystrophy; DYNC1LI2; cytoplasmic dynein 1 light intermediate chain 2; FLIM-FRET; fluorescence lifetime imaging-fluorescence resonance energy transfer; FS
Transcriptome of the Wistar audiogenic rat (WAR) strain following audiogenic seizures
Keywords: 5-HT; Serotonin; Acsm3; Acyl-CoA synthetase medium-chain family member 3; Acsm5; Acyl-CoA synthetase medium-chain family member 5; aGPCR; G protein-coupled adhesion receptors; ANOVA; analysis of variance; AS; audiogenic seizure; BH4; tetrahidropteridina;
Role of ABCA1 on membrane cholesterol content, insulin-dependent Akt phosphorylation and glucose uptake in adult skeletal muscle fibers from mice
Keywords: 2-NBDG; 2-[N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino]-2-deoxy-d-glucose; ABCA1; ATP binding cassette transporter A1; AMPK; AMP-activated protein kinase; DHPR; Dihydropyridine receptor; DMII; Diabetes mellitus type II; FDB; Flexor digitorum brevis; GLUT4;
L-type calcium channel: Clarifying the “oxygen sensing hypothesis”
Keywords: AID; alpha interacting domain; CaM; calmodulin; DHPR; dihydropyridine receptor; DTNB; 5,5â²-dithio bis-(2-nitro-benzoic acid); DTT; dithiothreitol; GSH; glutathione; GSSG; oxidised glutathione; H2O2; hydrogen peroxide; HO-2; heme oxygenase-2; LTCC; L-typ
The mammalian skeletal muscle DHPR has larger Ca2+ conductance and is phylogenetically ancient to the early ray-finned fish sterlet (Acipenser ruthenus)
Keywords: EC; excitation-contraction; DHPR; dihydropyridine receptor; RyR1; ryanodine receptor type-1; SR; sarcoplasmic reticulum; CICR; Ca2+-induced Ca2+ release; GLT; immortalized DHPRα1S-null murine myotubes; Po; open probability; Ts3R; teleost-specific 3rd rou
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives
Keywords: Cav1.1; alfa 1 subunit of the dihydropyridine receptor; CCD; central core disease; CNM; centronuclear myopathy; DHPR; dihydropyridine receptor; ECC; excitation contraction coupling; ECCE; excitation coupled calcium entry; ER; endoplasmic reticulum; HDAC;
In situ visualizing T-Tubule/SR junction reveals the ultra-structures of calcium storage and release machinery
Keywords: Integral-integral-membrane proteins; RyR1; Macromolecular architecture; Electron tomography; DHPR;
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Keywords: AADC; aromatic l-amino acid decarboxylase; AR/ADGTPCH; autosomal recessive/dominant GTP-cyclohydrolase deficiency; BH4; tetrahydrobiopterin; DAT; dopamine transporter; DÃH; dopamine β-hydroxylase; DHFR; dihydrofolate reductase deficiency; DHPR; dihydrop
How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'
Keywords: Athletic performance; Common human polymorphism; Molecular mechanism; Protein interactions; α-Actinin-3 deficiency; Muscle function; 2D; two-dimensional; ALP; actinin-associated LIM protein; ATP; adenosine triphosphate; BHAD; 3-hydroxyacyl-CoA dehydrogen
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
Keywords: BH4; tetrahydrobiopterin; CI; confidence interval; CV; coefficient of variation; DHPR; dihydropteridine reductase; GTPCH; guanosine triphosphate cyclohydrolase I; HPA; hyperphenylalaninemia; K-PD; kinetic pharmacodynamic; PAH; phenylalanine hydroxylase; P
Testosterone enhances cardiomyogenesis in stem cells and recruits the androgen receptor to the MEF2C and HCN4 genes
Keywords: mES; mouse embryonic stem cells; AR; androgen receptor; EB; embryoid body; EC; embryonal carcinoma; HCN4; hyperpolarization activated cyclic nucleotide-gated potassium channel-4; MEF2C; myocyte enhancer factor 2C; AREs; androgen response elements; Fin; fi
Redox-sensitive stimulation of type-1 ryanodine receptors by the scorpion toxin maurocalcine
Keywords: [Ca2+]; free calcium concentration; [Mg2+]; free magnesium concentration; DHPR; dihydropyridine receptor; DTT; dithiothreitol; EGTA; ethyleneglycol-bis(β-aminoethyl ether) N,N,Nâ²,Nâ²-tetraacetic acid; HEDTA; N-(2-hydroxyethyl)-ethylenediamine-triaceti
Dihydropteridine reductase activity in the brainstem of intrauterine growth-restricted rats
Keywords: IUGR, intrauterine growth restriction; 5-HT, 5-Hydroxytryptamine; BH4, tetrahydrobiopterin; l-Trp, l-tryptophan; Tph, tryptophan-5-hydroxylase; 5-HTP, 5-hydroxytryptophan; GTP, guanosine triphosphate; NADPH, nicotinamide adenine dinucleotide reduced; DHPR
Skeletal muscle excitation-contraction coupling is independent of a conserved heptad repeat motif in the C-terminus of the DHPRβ1a subunit
Keywords: EC; excitation-contraction; DHPR; 1,4-dihydropyridine receptor; RyR1; ryanodine receptor type-1; SR; sarcoplasmic reticulum; zf-; β1azebrafish β1a; rb-; β1arabbit β1a; GFP; green fluorescent protein; nt; nucleotide numbers; WT; wild-type; hpf; hours
A dihydropyridine receptor α1s loop region critical for skeletal muscle contraction is intrinsically unstructured and binds to a SPRY domain of the type 1 ryanodine receptor
Keywords: DHPR; RyR; Protein-protein interaction; NMR; Intrinsically unstructured protein;
Regulation of cardiac excitation and contraction by p21 activated kinase-1
Keywords: Protein phosphatase 2A; L-type Ca2+-channel; Sarcomeric protein phosphorylation; Ryanodine receptor; AC; denylate cyclase; Ad; adenovirus; BK channel; Ca2+-activated K+ currents; B(PR55); PP2A regulatory subunits; Bâ²(PR61); PP2A regulatory subunits; Bâ
Le complexe de relâchement du calcium du muscle squelettique et ses pathologies
Keywords: Calcium; RyR; DHPR; Hyperthermie maligne; Myopathies à cores; Calcium; RyR; DHPR; Malignant hyperthermia; Core myopathies;
The α1S N-terminus is not essential for bi-directional coupling with RyR1
Keywords: Excitation-contraction coupling; DHPR; α1S; CaV1.1; Skeletal muscle;
Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel
Keywords: ADR; arrested development of righting response; BHK; baby hamster kidney; BSA; bovine serum albumin; BTX; α-bungarotoxin; ClC-1; skeletal muscle chloride channel protein; DHPR; dihydropyridine receptor; EDL; musculus extensor digitorum longus; EDTA; ethy
Heredofamilial Brain Calcinosis Syndrome
Keywords: AHO; Albright hereditary osteodystrophy; APS; autoimmune polyglandular syndrome; BCS; brain calcinosis syndrome; COFS; cerebrooculo-facio-skeletal; CS; Cockayne syndrome; CT; computed tomography; DHPR; dihydropteridine reductase; GALC; galactocerebrosidas