Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. - Test2 - elhamkhani - TriplyDB

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

http://www.wikidata.org/entity/Q38236847

about

Mitochondrial Cardiomyopathies The COQ2 genotype predicts the severity of coenzyme Q10 deficiency Mitochondrial dysfunction in inherited renal disease and acute kidney injury Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.Association Analysis of COQ2 Variant in Dementia and Essential Tremor Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.Spectrum of combined respiratory chain defects.Early-onset of ADCK4 glomerulopathy with renal failure: a case report.ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.Molecular mechanisms of statin intolerance Bringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases.Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.Molecular diagnosis of coenzyme Q10 deficiency.Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.Biochemical Assessment of Coenzyme Q10 Deficiency.The Value of Coenzyme Q10 Determination in Mitochondrial Patients.Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases.Reversal of oxidative stress-induced apoptosis in T and B lymphocytes by Coenzyme Q10 (CoQ10).Statins, Muscle Disease and Mitochondria.Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.Using the Drosophila Nephrocyte to Model Podocyte Function and Disease.Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.Skeletal muscle mitochondrial bioenergetics and associations with myostatin genotypes in the Thoroughbred horse.Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?Coenzyme Q10 Supplementation in Aging and Disease.RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7.Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.Kaempferol increases levels of coenzyme Q in kidney cells and serves as a biosynthetic ring precursor.How Omics Data Can Be Used in Nephrology.Treatment of Genetic Forms of Nephrotic Syndrome.Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

P2860

Q26738378-2D4A723E-B68C-4865-A547-E4D50618AA5E Q28118957-0A8A4763-7EAF-42AC-AAE5-6C41A9D79F19 Q33793389-F37E6D93-3B85-4AFF-9B2B-3C00A6D1C125 Q33881708-27C5DDCA-CA30-40C4-8A5D-DB0821788694 Q35383960-A752237F-4AE2-4E10-B9C5-926EC89DCA73 Q35573392-1181C1E5-4F70-40F8-88A7-6C95A208F39F Q35602263-3E50F69C-62AB-49B3-A07A-3CCC6658B967 Q35822596-FCD534B1-14D9-461C-889D-615D7B6CD892 Q35825509-604A6400-7851-44F7-8422-97C55DC1C2A5 Q36309546-55CFB193-C654-4292-8155-C3BE26D61DA4 Q36417922-0847CAF9-C552-47F3-9CD3-FD4BA1D390BD Q36443232-428A1077-D1FA-4C4E-B5E8-7585C1D539AB Q36958324-BF381BF4-C6A2-4BD7-B1AF-E57B76821EA7 Q37014008-976594A1-19F4-4916-919E-BE1863E51314 Q38403821-97A93985-F66C-4B6B-B7DE-E14C44701219 Q38542981-EE07D39B-53CA-487C-98F9-B914DA7001FE Q38549163-34A36952-4F55-4A74-9AD1-B492AE934D35 Q39168844-804DBA92-BD2D-4F1D-9FDF-DE5115C16081 Q39198517-09D2AE9D-5725-4FE5-951A-8FA7BF19AAF9 Q40767246-4D0AF5F2-8427-4324-B3FD-4B2CB40CC15E Q41082895-1B799562-4662-4BAB-A28F-3D847F124532 Q41552418-9E8D4279-8E00-4DB0-8F35-EF88DEB6A8C6 Q46448831-FCE26811-CA26-4E5F-AE77-CD0FA8305FFC Q47115849-320C1ED0-0D6A-4F66-A97B-7CCF0EFF515C Q47134250-BBBA9278-D89E-49F8-977C-ADFEE0D25842 Q47137470-223C0906-ABC4-418C-B174-120D3B228287 Q47159524-F7840379-39BA-4AE7-91AC-884CF0FB0C0B Q47342038-08F040D3-AEA9-400F-8B91-21F7E40671D5 Q47380247-5F82A1C5-8310-43CC-8E63-769C37008D56 Q47732172-74BF9D3B-8358-4CFB-8C51-6E69C13B264C Q48799556-91603E68-BB68-4304-88C3-A9C0B4430AE5 Q49829630-4BC72F84-B737-4A5C-9A7B-8DC77F093EF6 Q51563326-F707699B-1AEE-49B4-A717-122E0932442B Q51613323-E2BC65DE-B978-4D4C-8318-86B855024DC4 Q51816591-7CD7CC14-F5C7-490F-9506-17487BE4C9A3 Q52373202-D26F9DD9-9DE3-40FB-B6A4-F3EB77C67DEB Q53697000-43D687AD-4E18-4B30-A1A8-0B6AB0F4C9BB Q58743477-9FF433C0-C7BA-4F49-ACBC-E59AA024D047

P2860

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

http://www.wikidata.org/entity/Q38236847

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

2014年论文

@zh

2014年论文

@zh-cn

name

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

@en

type

label

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

@en

prefLabel

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

@en

P1433

Q38236847-39763B01-4B79-4389-A963-09806B2B5597

P1476

Q38236847-F890BD6F-94AD-4866-864C-7EED6A76E67D

P2093

Q38236847-1B915D84-2F40-4817-A86F-0AED3C5FF794

Q38236847-2266AEAA-DC10-464C-B4D1-A81D947FBF3E

Q38236847-377CDC6F-2120-444E-AD85-415B44F072AB

Q38236847-50716788-3B81-44B7-9508-1FCF227DA2C6

Q38236847-BBE5712D-6FDE-469B-8CA1-6ED79BB709E5

P2860

Q38236847-00416BC2-9CCB-4B21-9F9A-33F82FA8F9C1

Q38236847-009FDCDD-24F1-43E0-9115-CFDA71C26A84

Q38236847-02F603CB-120D-47E1-B194-5DC97AB27D55

Q38236847-03807420-D3E0-471B-96D8-7316BD4C6E79

Q38236847-07BF6803-818B-4B3A-8576-6742DD96A04F

Q38236847-09DE97A7-BFD6-4CAE-8A2F-7FE882F6D607

Q38236847-0A2B2B84-182A-4C40-AAAA-8D78FCCB7BB5

Q38236847-0DE337F9-A49F-451A-A32B-960A28C71877

Q38236847-14690CDE-E946-4B96-9599-D57ABCC0E142

Q38236847-186F2E4B-307B-43C6-A260-AEFE2417B1D0

P2888

Q38236847-A8C024EB-0FBC-440C-91C2-2A435CD3FF9D

P304

Q38236847-318ED34C-4CBE-45BF-91DE-F04707DCBD11

P31

Q38236847-949503F2-5CAF-48F9-835E-F5220196CB80

P356

Q38236847-71EBC097-B214-481F-92D5-58E8E707E43F

P433

Q38236847-8B44F9DF-2B50-4EA7-B1D0-CDEA22473E74

P478

Q38236847-4CEF4C6E-3834-4E85-BD75-06BEC3475446

P577

Q38236847-ADCE9BBE-F385-4E2B-A8DB-54B64FC09FEA

P5875

Q38236847-2C8A53C1-0329-40D9-B0DC-81EA75E98CA2

P6179

Q38236847-D9BCA4D9-96BD-47B2-A30A-8E3EC1BEF9C4

P698

Q38236847-8820F85B-CA81-4F8B-B38A-C1DA501A9385

P921

Q38236847-DFEB7AA1-1734-41B6-97DA-22E1EE3741AE

P356

S10545-014-9749-9

P1433

Journal of Inherited Metabolic Disease

P1476

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

@en

P2093

Eva Trevisson

http://www.w3.org/2001/XMLSchema#string

Giada Lunardi

http://www.w3.org/2001/XMLSchema#string

Leonardo Salviati

http://www.w3.org/2001/XMLSchema#string

Mara Doimo

http://www.w3.org/2001/XMLSchema#string

Maria Andrea Desbats

http://www.w3.org/2001/XMLSchema#string

P2860

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration.

P2888

s10545-014-9749-9

P304

145-156

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S10545-014-9749-9

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

38

http://www.w3.org/2001/XMLSchema#string

P577

2014-08-05T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

264501760

http://www.w3.org/2001/XMLSchema#string

P6179

1034184152

http://www.w3.org/2001/XMLSchema#string

P698

25091424

http://www.w3.org/2001/XMLSchema#string

P921