Verfügbarkeit: Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease

Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease:

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Bibliographische Detailangaben
Beteilige Person:	Mayr, Simon Julius (VerfasserIn)
Format:	Hochschulschrift/Dissertation Buch
Sprache:	Englisch
Veröffentlicht:	Köln 2019
Schlagwörter:	Hochschulschrift
Links:	http://d-nb.info/1179103475/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031448072&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
Umfang:	139 Seiten in verschiedenen Seitenzählungen Illustrationen 21 cm

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Datensatz im Suchindex

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adam_text	CONTENT 1. INTRODUCTION.................................................................................................................................. 1 1.1. MOLYBDENUM IN BIOLOGICAL SYSTEMS................................................................................1 1.2. GENETICS OF MOLYBDENUM COFACTOR BIOSYNTHESIS.........................................................1 1.2.1. GENOMIC STRUCTURE OF MOLYBDENUM COFACTOR BIOSYNTHESIS ENCODING GENES., L 1.2.2. ALTERNATIVE SPLICING OF MOCS1 ..................................................................................2 1.3. MITOCHONDRIA......................................................................................................................... 3 1.3.1. TIM23 DEPENDENT MITOCHONDRIAL PROTEIN IMPORT.....................................................4 1.3.2. TIM23 INDEPENDENT MITOCHONDRIAL PROTEIN IMPORT................................................6 1.3.3. IRON-SULFUR CLUSTER BIOGENESIS AND INSERTION..........................................................7 1.4. MOLYBDENUM COFACTOR BIOSYNTHESIS............................................................................... 8 1.4.1. CYCLIC PYRANOPTERIN (CPMP) MONOPHOSPHATE BIOSYNTHESIS ............................... 8 1.4.1 .A THE RADICAL SAM ENZYME MOCS1A ...................................................................... 8 1.4.1 .B MOCS1A AND THE SYNTHESIS OF 3,8-CH2-GTP........................................................9 1.4.1. C MOCS1AB AND CYCLIC PYRANOPTERIN MONOPHOSPHATE FORMATION..................11 1.4.2. THE BIOSYNTHESIS OF MOLYBDOPTERIN.........................................................................12 1.4.3. MOLYBDOPTERIN ADENYLATION AND MOLYBDENUM INSERTION ................................... 14 1.5. THE PTERIN-BASED MOLYBDENUM COFACTOR.......................................................................15 1.5.1. E. COIF NITRATE REDUCTASE A AND FORMATE DEHYDROGENASE N .............................. 16 1.5.2. FUNCTION AND DYSFUNCTION OF MAMMALIAN MOCO ENZYMES ................................ 17 1.5.2. B THE MITOCHONDRIAL AMIDOXIME REDUCING COMPONENT ..................................... 17 1.5.2. C ALDEHYDE OXIDASE..............................................................................................18 1.5.2. D XANTHINE OXIDOREDUCTASE AND XANTHINURIA ....................................................... 18 1.5.2. E SULFITE OXIDASE IN HEALTH AND DISEASE.............................................................19 1.6. MOLYBDENUM COFACTOR DEFICIENCY................................................................................... 20 1.6.1. CYSTEINE CATABOLISM AND THE TOXICITY OF SULFITE AND S-SULFOCYSTEINE ............. 21 1.6.2. TREATMENT OPTIONS OF MOLYBDENUM COFACTOR DEFICIENCY .................................... 23 1.6.3. MOLYBDENUM COFACTOR DEFICIENCY AND NEONATAL BRAIN INJURY ........................... 23 1.7. A IM S......................................................................................................................................25 2. RESULTS AND DISCUSSION.......................................................................................................... 26 2.1. A MILD CASE OF MOLYBDENUM COFACTOR DEFICIENCY DEFINES AN ALTERNATIVE ROUTE OF M0CS1 PROTEIN MATURATION..................................................................................................... 26 2.2. FORECASTING THE INCIDENCE OF RARE DISEASES: AN ITERATIVE COMPUTATIONAL AND BIOCHEMICAL APPROACH IN MOLYBDENUM COFACTOR DEFICIENCY TYPE A .............................. 29 2.2.1. ITERATIVE CLASSIFICATION AND TESTING OF MOCS1 MISSENSE VARIANTS................... 30 2.2.2. SECOND ITERATION OF CLASSIFICATION AND TESTING OF MOCS1 VARIANTS ................. 31 2.3. ALTERNATIVE SPLICING OF BICISTRONIC MOCS1 DEFINES A NOVEL MITOCHONDRIAL PROTEIN MATURATION MECHANISM............................................................................................................ 32 2.3.1. CELLULAR LOCALIZATION OF MOCS1A PROTEINS ............................................................. 33 2.3.2. CELLUAR LOCALIZATION OF MOCS1AB PROTEINS ........................................................... 33 2.3.3. SUB-MITOCHONDRIAL LOCALIZATION OF MOCS1AB PROTEINS ...................................... 34 2.3.4. MATURATION OF MOCS1 AB PROTEINS........................................................................... 35 3. LITERATURE.................................................................................................................................... 37 4. APPENDIX.................................................................................................................................... 45 4.1. A MILD CASE OF MOLYBDENUM COFACTOR DEFICIENCY DEFINES AN ALTERNATIVE ROUTE OF MOCS1 PROTEIN MATURATION 4.2. FORECASTING THE INCIDENCE OF RARE DISEASES: AN ITERATIVE COMPUTATIONAL AND BIOCHEMICAL APPROACH IN MOLYBDENUM COFACTOR DEFICIENCY TYPE A 4.3. ALTERNATIVE SPLICING OF BICISTRONIC MOCS1 DEFINES A NOVEL MITOCHONDRIAL PROTEIN MATURATION MECHANISM 5. ACKNOWLEDGEMENT.................................................................................................................. 6. ERKLAERUNG.................................................................................................................................... ILL 7. LEBENSLAUF.................................................................................................................................. IV
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spellingShingle	Mayr, Simon Julius Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease
subject_GND	(DE-588)4113937-9
title	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease
title_auth	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease
title_exact_search	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease
title_full	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease Simon Julius Mayr
title_fullStr	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease Simon Julius Mayr
title_full_unstemmed	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease Simon Julius Mayr
title_short	Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease
title_sort	maturation function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease
topic_facet	Hochschulschrift
url	http://d-nb.info/1179103475/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031448072&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
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