肌肉细胞膜具有许多离子通道，其中一种是电压门控离子通道—二氢吡啶受体DHPR(voltage-gated ion channel Dihydropyridine receptor)。 肌肉细胞膜接受电信号(action potential)后，DHPR开放导致少量胞外钙离子进入细胞质。

Cav1.1（也叫dihydropyridine receptor，DHPR）是最早被鉴定出的电压门控钙离子通道，主要位于骨骼肌细胞的横小管（transverse tubule），是肌肉兴奋收缩偶联（excitation-contraction（E-C）coupling）过程中的关键蛋白。

In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca 2+ channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca 2+ release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad. Here, we characterize a novel class of congenital myopathy at the ...

2015年2月10日 · Dihydropyridine receptor (DHPR), an L-type Ca 2+ channel complex, plays an essential role in muscle contraction, secretion, integration of synaptic input in neurons...

Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal recessive pattern. It is one of the six known disorders causing tetrahydrobiopterin deficiency, and occurs in patients with mutations of the QDPR gene.

2022年11月23日 · LTCCs，也被称为二氢吡啶受体(dihydropyridine receptors, DHPR)，指电压门控Ca2+通道的Cav1亚家族。 LTCCs是由核心α1亚基、细胞外a2d亚基、细胞内b亚基和某些复合物的跨膜G亚基组成的异质通道。 Cav通道的分类基于α1亚基，它包括4个重复，每个重复包含6个跨膜段S1-S6。 每个重复的S1-S4段构成电压敏感域(voltage-sensing domain, VSD)，它随着膜电位的波动而发生构象变化。 四个重复序列的S5和S6片段包围了负责选择性Ca2+电导的中央孔 …

Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4).

The 1,4 Dihydropyridine Receptor is a protein complex that senses membrane depolarization in muscle cells, opening a calcium channel to allow calcium entry, influencing muscle contraction. You might find these chapters and articles relevant …

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures ...

2020年2月3日 · Follow this link to review classifications for Dihydropteridine reductase deficiency in Orphanet. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH (4)) deficiencies.