[Portrait du sprinter Emile] Ali Khan [vainqueur du 100 m des championnats de France d'athlétisme, le 18/7/20, stade Pershing] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 60110

[Portrait du sprinter Emile] Ali Khan [vainqueur du 100 m des championnats de France d'athlétisme, le 18/7/20, stade Pershing] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 60111

Essad Pasha [général turc assassiné par un étudiant albanais devant l'hôtel Continental, rue de Castiglione à Paris le 13 juin 1920] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59712

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q(10) deficiency

Muscle coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency has been identified in more than 20 patients with presumed autosomal-recessive ataxia. However, mutations in genes required for CoQ(10) biosynthetic pathway have been identified only in patients with infantile-onset multisystemic diseases or isolated nephropathy. Our SNP-based genome-wide scan in a large consanguineous family revealed a locus for autosomal-recessive ataxia at chromosome 1q41. The causative mutation is a homozygous splice-site mutation in the aarF-domain-containing kinase 3 gene (ADCK3). Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ(10) deficiency in muscle. All of the patients have childhood-onset cerebellar ataxia with slow progression, and three of six have mildly elevated lactate levels. ADCK3 is a mitochondrial protein homologous to the yeast COQ8 and the bacterial UbiB proteins, which are required for CoQ biosynthesis. Three out of four patients tested showed a low endogenous pool of CoQ(10) in their fibroblasts or lymphoblasts, and two out of three patients showed impaired ubiquinone synthesis, strongly suggesting that ADCK3 is also involved in CoQ(10) biosynthesis. The deleterious nature of the three identified missense changes was confirmed by the introduction of them at the corresponding positions of the yeast COQ8 gene. Finally, a phylogenetic analysis shows that ADCK3 belongs to the family of atypical kinases, which includes phosphomositide and choline kinases, suggesting that ADCK3 plays an indirect regulatory role in ubiquinone biosynthesis possibly as part of a feedback loop that regulates ATP production.

Crimes célèbres,

t. 1. Les Cenci. La marquise de Brinvilliers. Karl Ludwig Sand. Marie Stuart [1. ptie.]--t. 2. Marie Stuart [2. ptie.] La marquise de Ganges (1. Ptie.)--t. 3. La marquise de Ganges (2. ptie.) Murat. Les Borgia (1. ptie.)--t. 4. Les Borgia (suite) Urbain Grandier. Vaninka.--t. 5. Massacres du Midi (1. ptie.)--t. 6. Massacres du Midi (2. ptie.) La comtesse de Saint-Géran. Jeanne de Naples. Nisida [1. ptie.]--t. 7. Nisida (2. ptie.) Derues. Martin Guerre. Ali-Pacha (1. ptie.)--t. 8. Ali-Pacha (2. ptie.) La Constantin. L'homme au masque de fer.