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:

Gespeichert in:

Bibliographische Detailangaben
1. Verfasser:	Mayr, Simon Julius (VerfasserIn)
Format:	Abschlussarbeit Buch
Sprache:	English
Veröffentlicht:	Köln 2019
Schlagworte:	Hochschulschrift
Online-Zugang:	Inhaltsverzeichnis Inhaltsverzeichnis
Beschreibung:	139 Seiten in verschiedenen Seitenzählungen Illustrationen 21 cm

Internformat

MARC


LEADER	00000nam a2200000 c 4500
001	BV046066837
003	DE-604
005	20200204
007	t
008	190726s2019 gw a\|\|\| m\|\|\| 00\|\|\| eng d
015			\|a 19,H05 \|2 dnb
016	7		\|a 1179103475 \|2 DE-101
020			\|c Broschur
035			\|a (OCoLC)1111847598
035			\|a (DE-599)DNB1179103475
040			\|a DE-604 \|b ger \|e rda
041	0		\|a eng
044			\|a gw \|c XA-DE
049			\|a DE-355 \|a DE-83
084			\|a 610 \|2 sdnb
100	1		\|a Mayr, Simon Julius \|e Verfasser \|0 (DE-588)1176454420 \|4 aut
245	1	0	\|a Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease \|c Simon Julius Mayr
264		1	\|a Köln \|c 2019
300			\|a 139 Seiten in verschiedenen Seitenzählungen \|b Illustrationen \|c 21 cm
336			\|b txt \|2 rdacontent
337			\|b n \|2 rdamedia
338			\|b nc \|2 rdacarrier
502			\|b Dissertation \|c Universität zu Köln \|d 2018
655		7	\|0 (DE-588)4113937-9 \|a Hochschulschrift \|2 gnd-content
856	4	2	\|m B:DE-101 \|q application/pdf \|u http://d-nb.info/1179103475/04 \|3 Inhaltsverzeichnis
856	4	2	\|m DNB Datenaustausch \|q application/pdf \|u 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 \|3 Inhaltsverzeichnis
999			\|a oai:aleph.bib-bvb.de:BVB01-031448072

Datensatz im Suchindex

_version_	1804180348452470784
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
any_adam_object	1
author	Mayr, Simon Julius
author_GND	(DE-588)1176454420
author_facet	Mayr, Simon Julius
author_role	aut
author_sort	Mayr, Simon Julius
author_variant	s j m sj sjm
building	Verbundindex
bvnumber	BV046066837
ctrlnum	(OCoLC)1111847598 (DE-599)DNB1179103475
discipline	Medizin
format	Thesis Book
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01399nam a2200349 c 4500</leader><controlfield tag="001">BV046066837</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20200204 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">190726s2019 gw a\|\|\| m\|\|\| 00\|\|\| eng d</controlfield><datafield tag="015" ind1=" " ind2=" "><subfield code="a">19,H05</subfield><subfield code="2">dnb</subfield></datafield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">1179103475</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="c">Broschur</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1111847598</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DNB1179103475</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="044" ind1=" " ind2=" "><subfield code="a">gw</subfield><subfield code="c">XA-DE</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-355</subfield><subfield code="a">DE-83</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">610</subfield><subfield code="2">sdnb</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Mayr, Simon Julius</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)1176454420</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease</subfield><subfield code="c">Simon Julius Mayr</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Köln</subfield><subfield code="c">2019</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">139 Seiten in verschiedenen Seitenzählungen</subfield><subfield code="b">Illustrationen</subfield><subfield code="c">21 cm</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="502" ind1=" " ind2=" "><subfield code="b">Dissertation</subfield><subfield code="c">Universität zu Köln</subfield><subfield code="d">2018</subfield></datafield><datafield tag="655" ind1=" " ind2="7"><subfield code="0">(DE-588)4113937-9</subfield><subfield code="a">Hochschulschrift</subfield><subfield code="2">gnd-content</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">B:DE-101</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://d-nb.info/1179103475/04</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">DNB Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">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</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-031448072</subfield></datafield></record></collection>
genre	(DE-588)4113937-9 Hochschulschrift gnd-content
genre_facet	Hochschulschrift
id	DE-604.BV046066837
illustrated	Illustrated
indexdate	2024-07-10T08:34:20Z
institution	BVB
language	English
oai_aleph_id	oai:aleph.bib-bvb.de:BVB01-031448072
oclc_num	1111847598
open_access_boolean
owner	DE-355 DE-BY-UBR DE-83
owner_facet	DE-355 DE-BY-UBR DE-83
physical	139 Seiten in verschiedenen Seitenzählungen Illustrationen 21 cm
publishDate	2019
publishDateSearch	2019
publishDateSort	2019
record_format	marc
spelling	Mayr, Simon Julius Verfasser (DE-588)1176454420 aut Maturation, function and genetic variation of human molybdenum cofactor synthesis 1 proteins in health and disease Simon Julius Mayr Köln 2019 139 Seiten in verschiedenen Seitenzählungen Illustrationen 21 cm txt rdacontent n rdamedia nc rdacarrier Dissertation Universität zu Köln 2018 (DE-588)4113937-9 Hochschulschrift gnd-content B:DE-101 application/pdf http://d-nb.info/1179103475/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf 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 Inhaltsverzeichnis
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
work_keys_str_mv	AT mayrsimonjulius maturationfunctionandgeneticvariationofhumanmolybdenumcofactorsynthesis1proteinsinhealthanddisease

Verfügbarkeit

Es ist kein Print-Exemplar vorhanden.

Fernleihe Bestellen Achtung: Nicht im THWS-Bestand! Inhaltsverzeichnis
Inhaltsverzeichnis

MARC

Datensatz im Suchindex

Es ist kein Print-Exemplar vorhanden.

Ähnliche Einträge