The mitochondrial heme metabolon: Insights into the complex(ity) of heme synthesis and distribution [0.03%]
线粒体血红素代谢体：对血红素生物合成与分布的复杂性的新认识
Robert B Piel rd,Harry A Dailey Jr,Amy E Medlock
Robert B Piel rd
Heme is an essential cofactor in metazoans that is also toxic in its free state. Heme is synthesized by most metazoans and must be delivered to all cellular compartments for incorporation into a variety of hemoproteins. The heme biosynthesi...
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother [0.03%]
线粒体DNA背景决定了近均质m.1630A>G(MELAS)变异个体临床表型的外显率：家系研究及细胞系模型分析
Martine Uittenbogaard,Hao Wang,Victor Wei Zhang et al.
Martine Uittenbogaard et al.
In this study, we report the metabolic consequences of the m.1630 A > G variant in fibroblasts from the symptomatic proband affected with the mitochondrial encephalomyopathy lactic acidosis and stroke-like episode Syndrome and her asymptoma...
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management [0.03%]
红细胞生成性原卟啉病和X连锁原卟啉症：病理生理、遗传学、临床表现及治疗管理
Manisha Balwani
Manisha Balwani
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. EPP results from the partial deficiency of ferrochelatase, and XLP r...
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier [0.03%]
GM3合成酶缺乏症的自然病史、生化特性及治疗进展
Lauren E Bowser,Millie Young,Olivia K Wenger et al.
Lauren E Bowser et al.
GM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides. Here, we present biochemical, functional, and natural history data from 50 individuals homozygous for a pathogenic ST3GAL5 c.862C>T founder allel...
Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells [0.03%]
TRPS1转录因子调控牙组织矿化及牙齿器官细胞增殖
Morgan Goss,Mairobys Socorro,Daisy Monier et al.
Morgan Goss et al.
Mutations of the TRPS1 gene cause trichorhinophalangeal syndrome (TRPS), a skeletal dysplasia with dental abnormalities. TRPS dental phenotypes suggest that TRPS1 regulates multiple aspects of odontogenesis, including the tooth number and s...
Ammonium accumulation and chemokine decrease in culture media of Gcdh-/- 3D reaggregated brain cell cultures [0.03%]
Gcdh基因敲除的三维再聚集脑细胞培养物中铵积累和趋化因子降低
Hong-Phuc Cudré-Cung,Noémie Remacle,Sonia do Vale-Pereira et al.
Hong-Phuc Cudré-Cung et al.
Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene. Its deficiency results in accumulation of the key metabolites glutaric acid (GA) and 3-hydroxyglutaric acid (3-OHGA) in body tissues and fluids. Present knowledge on t...
Angelika L Erwin,Robert J Desnick
Angelika L Erwin
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) ...
A E van Rijssel,S Knuijt,K Veys et al.
A E van Rijssel et al.
Introduction: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also o...
Comparative Study
Molecular genetics and metabolism. 2019 Apr;126(4):413-415. DOI:10.1016/j.ymgme.2019.01.011 2019
Ashwani K Singal
Ashwani K Singal
Porphyria cutanea tarda (PCT) is the most common human porphyria, due to hepatic deficiency of uroporphyrinogen decarboxylase (UROD), which is acquired in the presence of iron overload and various susceptibility factors, such as alcohol abu...
Ketogenic and anaplerotic dietary modifications ameliorate seizure activity in Drosophila models of mitochondrial encephalomyopathy and glycolytic enzymopathy [0.03%]
线粒体脑肌病和糖酵解酶缺陷的果蝇模型中生酮及反底物饮食改善了惊厥活动
Keri J Fogle,Amber R Smith,Sidney L Satterfield et al.
Keri J Fogle et al.
Seizures are a feature not only of the many forms of epilepsy, but also of global metabolic diseases such as mitochondrial encephalomyopathy (ME) and glycolytic enzymopathy (GE). Modern anti-epileptic drugs (AEDs) are successful in many cas...