BACKGROUND: A recent article in Circulation Research suggests that the protein ABCC6, which when defective is responsible for pseudoxanthoma elasticum, an inherited condition with skin, eye and cardiovascular manifestations, is associated with dysfunction in mitochondria--Martin et al.: ABCC6 Localizes to the Mitochondria-Associated Membrane.Circ Res 2012, 111:516-520. We present complementary information based on a bioinformatics analysis, which was not performed in the article cited, to examine the suggestion that ABCC6 is localized to mitochondria. RESULTS: All the computational strategies and integrative approaches that constitute references in the field indicate that ABCC6 is localized outside of mitochondria. CONCLUSION: Our computati...
Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2009.Cataloged from PDF ver...
Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related ...
Abnormal mineralization occurs in the context of several common conditions, including advanced age, ...
International audienceBACKGROUND: A recent article in Circulation Research suggests that the protein...
RATIONALE: ABCC6 plays a crucial role in ectopic calcification; mutations of the gene cause pseudoxa...
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritanc...
Mitochondria form dynamic tubular networks through processes of fission and fusion. Defect in mitoch...
ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- ...
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associat...
ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein fa...
Pathogenic variants that disrupt human mitochondrial protein synthesis are associated with a clinica...
In human mitochondria, mtDNA encodes for only 13 proteins, all components of the OXPHOS system. The ...
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-...
Inactivating mutations in ABCC6 underlie the rare hereditary mineralization disorder pseudoxanthoma ...
Author Posting. © American Society for Biochemistry and Molecular Biology, 2004. This article is po...
Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2009.Cataloged from PDF ver...
Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related ...
Abnormal mineralization occurs in the context of several common conditions, including advanced age, ...
International audienceBACKGROUND: A recent article in Circulation Research suggests that the protein...
RATIONALE: ABCC6 plays a crucial role in ectopic calcification; mutations of the gene cause pseudoxa...
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritanc...
Mitochondria form dynamic tubular networks through processes of fission and fusion. Defect in mitoch...
ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- ...
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associat...
ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein fa...
Pathogenic variants that disrupt human mitochondrial protein synthesis are associated with a clinica...
In human mitochondria, mtDNA encodes for only 13 proteins, all components of the OXPHOS system. The ...
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-...
Inactivating mutations in ABCC6 underlie the rare hereditary mineralization disorder pseudoxanthoma ...
Author Posting. © American Society for Biochemistry and Molecular Biology, 2004. This article is po...
Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2009.Cataloged from PDF ver...
Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related ...
Abnormal mineralization occurs in the context of several common conditions, including advanced age, ...