000 04147nam a22004575i 4500
001 978-1-4614-3722-2
003 DE-He213
005 20140220082812.0
007 cr nn 008mamaa
008 120917s2013 xxu| s |||| 0|eng d
020 _a9781461437222
_9978-1-4614-3722-2
024 7 _a10.1007/978-1-4614-3722-2
_2doi
050 4 _aRB155-155.8
050 4 _aQH431
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
100 1 _aWong, Lee-Jun C.
_eeditor.
245 1 0 _aMitochondrial Disorders Caused by Nuclear Genes
_h[electronic resource] /
_cedited by Lee-Jun C. Wong.
264 1 _aNew York, NY :
_bSpringer New York :
_bImprint: Springer,
_c2013.
300 _aXII, 369 p. 32 illus., 20 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aPart 1: Overview -- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders -- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders -- Part 2: Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity -- Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions -- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease -- Deoxyguanosine Kinase -- MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome -- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1) -- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability -- Depletion of mtDNA with MMA: SUCLA2 and SUCLG1 -- RRM2B-Related Mitochondrial Disease -- Part 3: Complex Subunits and Assembly Genes -- Complex Subunits and Assembly Genes: Complex I -- Mitochondrial Respiratory Chain Complex II -- Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models -- Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases -- Part 4: Mitochondrial Protein Translation Related Diseases -- Mitochondrial Aminoacyl-tRNA Synthetases -- Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors -- Disorders of Mitochondrial RNA Modification -- Part 5: Others -- Pyruvate Dehydrogenase Complex Deficiencies -- Nuclear Genes Causing Mitochondrial Cardiomyopathy -- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins -- Index.
520 _aMitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells.  In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.  Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. Mitochondrial Disorders Caused by Nuclear Genes discusses the biochemical, molecular, clinical, and genetic aspects of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases.
650 0 _aMedicine.
650 0 _aHuman genetics.
650 1 4 _aBiomedicine.
650 2 4 _aHuman Genetics.
650 2 4 _aMolecular Medicine.
650 2 4 _aBiomedicine general.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9781461437215
856 4 0 _uhttp://dx.doi.org/10.1007/978-1-4614-3722-2
912 _aZDB-2-SBL
999 _c95006
_d95006