Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
about
Mitochondrial genome changes and neurodegenerative diseasesAbnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaA monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells.Canine MPV17 truncation without clinical manifestations.Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver FailureDysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease.Renal manifestations of genetic mitochondrial disease.Mitochondrial dysfunction in liver failure requiring transplantation.Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher diseaseThree Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial FunctionMitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
P2860
Q27023750-59F93C6B-E93E-4851-8D8B-835567661613Q34422362-BB37AA4D-7625-4F4A-A112-484BF4DC9811Q34471186-F25AC6B6-4E71-4457-AF9E-A95A57B072B7Q35795439-FB7F65F7-E4C3-4B59-B4F7-0E112198ACCAQ35799697-9EB05F1B-61A8-4B22-A003-7EDAD272574AQ35892524-A68D3396-AE54-4172-BCAA-6607E45C6010Q35938022-05C87517-8352-4C99-8503-05987C262132Q36175351-40EFC950-F222-4645-A22C-A8925C797C44Q36282442-3BBD5A88-06E5-4B48-9F8E-55AB3CD0ACEFQ37157999-EE5D7DEA-205F-4F86-95F6-DF2B88619842Q37420517-5E28E3FF-93C0-40E9-AF0E-8E6D771D3DB8Q37577747-C93A31BD-99F8-47CD-9D03-0E1E3032FA83Q38168700-DF60F00E-0911-416D-B6F2-421EBC2714E2Q38187116-D3F1A01C-2884-4A98-8F3C-42B57E760901Q40832719-B319F907-6105-4053-A031-CF0C26C4C8FFQ42008030-AAE04706-CA03-451D-869A-CC7E1B57566EQ42124240-1EAEDF56-193A-4F53-9548-EA0063556913Q46755952-46E92D48-92A8-472F-BDFD-EB719D585FA3Q47250447-958BBDB4-834E-4305-AD9A-5F7EE53BD4D0
P2860
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@ast
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@en
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@nl
type
label
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@ast
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@en
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@nl
prefLabel
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@ast
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@en
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@nl
P2093
P2860
P50
P356
P1476
Clinical, biochemical, cellula ...... el mutations in the MPV17 gene
@en
P2093
Abdulrahman Al-Hussaini
Alastair Baker
Andrew Am Morris
Anna Butterworth
Anneke Seller
Areej Al-Sunaid
Arundhati Mulay
Carl Fratter
Chunyan Liao
P2860
P2888
P304
P356
10.1038/EJHG.2013.112
P577
2013-05-29T00:00:00Z