Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.
about
Structure of the large ribosomal subunit from human mitochondria.The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacitySpectrum of combined respiratory chain defects.Mitochondrial ribosome assembly in health and diseaseMitochondrial Ribosomal Protein L12 Is Required for POLRMT Stability and Exists as Two Forms Generated by Alternative Proteolysis during Import.Mitochondrial Ribosomal Protein L10 Associates with Cyclin B1/Cdk1 Activity and Mitochondrial FunctionAdult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Next-generation sequencing for mitochondrial disordersMitochondria: impaired mitochondrial translation in human diseaseBiallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Mouse models for mitochondrial diseases.The process of mammalian mitochondrial protein synthesis.COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.Age-related neurodegenerative disease associated pathways identified in retinal and vitreous proteome from human glaucoma eyes.MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells.Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
P2860
Q28116177-BB3AC111-983E-4C88-826D-DDB5382BD149Q30567357-16C61F7D-69D0-4288-B6FD-2FBD93F4E055Q34112959-DE37E27F-27DC-4B02-8834-947E2DA23C2DQ35214206-649C1116-0694-4AF2-B6E5-EAE491BA0CD8Q35722253-6B145C92-FDF5-4027-802C-F6852F4F31CCQ35825509-18D06DE9-1B3A-4585-AD8E-1B39E7AE6AECQ36189272-9865BEA4-07CD-46CE-A3C4-8DE5DF28A1F7Q36442466-E7381A65-8F15-415F-B273-E9714C169CC4Q37408996-DD049746-3B3A-43C5-8599-8EB16CAF323AQ37589775-403E22B3-A773-4CC2-9234-00AF16700BFEQ37686243-10E3E58A-D3D3-4EE4-B5DD-0E0898620547Q38177561-12D39581-9CEB-477D-9E78-6FD64933EFDDQ38640567-33A5AB0E-DCB9-4DC9-9068-0DC369594801Q38872626-25B6D8AD-28DF-4180-9F1F-56877502EA7EQ38895517-A8423DDE-6807-4ECE-9C10-76AAA52C05FFQ41009054-E0D1A06D-09E4-44F9-A43E-092CCBC4931BQ41629507-0F888429-B4A6-49E8-B938-B948DB177DB8Q41779514-C8429FB3-E692-4DC7-9B50-F3032FFECFEBQ42281478-C88B6C77-5B8A-44CE-93F2-39B5145DEAA9Q48268668-116CC53C-4759-4D99-9DC3-E534683BEE0DQ50421076-1AD219F0-18E0-4795-B57B-938252C0D99EQ52342700-E85D54B0-9E2F-4CD4-80A7-CD6E0867A450
P2860
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.
description
2013 nî lūn-bûn
@nan
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
2013年论文
@zh
2013年论文
@zh-cn
name
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@en
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@nl
type
label
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@en
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@nl
prefLabel
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@en
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@nl
P2093
P2860
P50
P1476
Mutations in mitochondrial rib ...... ndrial translation deficiency.
@en
P2093
Agata Rozanska
Dominique Chretien
Marine Beinat
Nathalie Boddaert
Valérie Serre
P2860
P304
P356
10.1016/J.BBADIS.2013.04.014
P577
2013-04-18T00:00:00Z