Lysosomal storage disease: aspartylglycosaminuria:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | German |
| Veröffentlicht: |
New York ; Berlin ; Heidelberg ; London ; Paris ; Tokyo ; Hong K
Springer
1997
Austin, Texas Landes |
| Schriftenreihe: | Medical intelligence unit
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | 197 S. Ill., graph. Darst. |
| ISBN: | 3540628991 |
Internformat
MARC
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| 245 | 1 | 0 | |a Lysosomal storage disease: aspartylglycosaminuria |c Ilkka Mononen ... |
| 264 | 1 | |a New York ; Berlin ; Heidelberg ; London ; Paris ; Tokyo ; Hong K |b Springer |c 1997 | |
| 264 | 1 | |a Austin, Texas |b Landes | |
| 300 | |a 197 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 0 | |a Medical intelligence unit | |
| 500 | |a Literaturangaben | ||
| 650 | 4 | |a Aspartylglycosaminuria | |
| 650 | 4 | |a Lysosomal Storage Diseases | |
| 650 | 4 | |a Lysosomal storage diseases | |
| 650 | 0 | 7 | |a Aspartylglykosaminurie |0 (DE-588)4462515-7 |2 gnd |9 rswk-swf |
| 655 | 7 | |0 (DE-588)4143413-4 |a Aufsatzsammlung |2 gnd-content | |
| 689 | 0 | 0 | |a Aspartylglykosaminurie |0 (DE-588)4462515-7 |D s |
| 689 | 0 | |5 DE-604 | |
| 700 | 1 | |a Mononen, Ilkka |e Sonstige |4 oth | |
| 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=007717356&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 943 | 1 | |a oai:aleph.bib-bvb.de:BVB01-007717356 | |
Datensatz im Suchindex
| _version_ | 1807501562030850048 |
|---|---|
| adam_text |
CONTENTS
1.
DISCOVERY
OF
ASPARTYLGLYCOSAMINURIA
IN
ENGLAND
.
1
R.J.
POLLITT
2.
PEPTIDURIA
AND
SUBSEQUENT
ASPARTYLGLYCOSAMINURIA
IN
FINLAND
.
11
JORMA
PALO
ABNORMAL
SPOT
.
11
ABNORMAL
FACE
.
14
ABNORMAL
PEPTIDE
.
14
NEW
DISEASE
.
15
NEW
DIRECTIONS
.
16
3.
CLINICAL
MANIFESTATIONS
OF
ASPARTYLGLYCOSAMINURIA
.
19
MARIA
ARVIO,
SEPPO
AUTIO
AND
TARJA
MONONEN
EARLY
CLINICAL
SYMPTOMS
.
20
PROGRESSIVE
MENTAL
AND
MOTOR
DETERIORATION
.
20
PSYCHIATRIC
SYMPTOMS
.
22
COARSENING
HABITUS
.
23
OTHER
CLINICAL
MANIFESTATIONS
.
25
TEST
FINDINGS
.
26
LIFE
EXPECTANCY
.
28
NON-FINNISH
PATIENTS
WITH
ASPARTYLGLYCOSAMINURIA
.
28
4.
LIFE
WITH
ASPARTYLGLUCOSAMINURIA
.
33
MARIA
ARVIO
ADAPTIVE
SKILLS
IN
PATIENTS
WITH
AGU
.
34
SOCIALIZATION
SKILLS
.
35
SELF-HELP
SKILLS
.
35
LANGUAGE
.
38
MOTOR
SKILLS
.
38
MALADAPTIVE
BEHAVIOR
.
39
5.
BIOCHEMISTRY
AND
BIOCHEMICAL
DIAGNOSIS
OF
ASPARTYLGLYCOSAMINURIA
.
41
TARJA
MONONEN
AND
ILKKA
MONONEN
STORAGE
MATERIAL
.
42
ASSAY
OF
GLYCOASPARAGINES
.
44
ASSAY
OF
GLYCOSYLASPARAGINASE
ACTIVITY
.
46
CARRIER
DETECTION
AND
PRENATAL
DIAGNOSIS
.
47
CONCLUSIONS
.
49
6.
ASPARAGINE-LINKED
GLYCOPROTEINS
AND
THEIR
DEGRADATION
.
55
NATHAN
N.
ARONSON,
JR.
DISCOVERY
OF
ASN-LINKED
GLYCOPROTEINS
.
56
CHEMISTRY
AND
BIOSYNTHESIS
OF
THE
GLCNAC-ASN
LINKAGE
.
58
LYSOSOMAL
DEGRADATION
OF
ASN-LINKED
GLYCOPROTEINS:
GENERAL
FEATURES
.
60
LYSOSOMAL
DEGRADATION
OF
ASN-LINKED
GLYCOPROTEINS:
OLIGOSACCHARIDE
COMPONENT
.
65
LYSOSOMAL
DEGRADATION
OF
ASN-LINKED
GLYCOPROTEINS:
PROTEIN
AND
LINKAGE
REGION
.
67
LINKAGE
REGION:
ROLE
OF
GLYCOSYLASPARAGINASE
.
67
LINKAGE
REGION:
ROLE
OF
CHITOBIASE
.
68
SUMMARY
.
71
7.
ENZYMOLOGY
AND
STRUCTURAL
BIOLOGY
OF
GLYCOSYLASPARAGINASE
.
77
TIINA
NORONKOSKI,
OLE
K.
TOLLERSRUD
AND
ILKKA
MONONEN
DISCOVERY
OF
GLYCOSYLASPARAGINASE
.
77
ONE
ENZYME
-
SEVERAL
NAMES
.
78
PRELIMINARY
CHARACTERIZATION
OF
GLYCOSYLASPARAGINASE
.
79
PROTEIN
STRUCTURE
.
80
DISULFIDE
BRIDGES
.
85
N-LINKED
OLIGOSACCHARIDE
CHAINS
ARE
ESSENTIAL
FOR
TRANSFER
TO
LYSOSOMES
.
86
RECOMBINANT
GLYCOSYLASPARAGINASE
.
87
PROPERTIES
OF
GLYCOSYLASPARAGINASES
.
88
8.
FLAVOBACTERIUM
MENINGOSEPTICUM
GLYCOSYLASPARAGINASE
.
101
ANTHONY
L.
TARENTINO
GLYCOSYLASPARAGINASE
FALLS
INTO
DISUSE
.
103
PNGASE
F
AND
GLYCOSYLASPARAGINASE
.
103
PURIFICATION
AND
PROPERTIES
OF
GLYCOSYLASPARAGINASE
.
104
SUBUNIT
STRUCTURE
AND
RELATIONSHIP
TO
THE
MAMMALIAN
GLYCOSYLASPARAGINASE
.
107
MOLECULAR
BIOLOGY
OF
FLAVOBACTERIUM
GLYCOSYLASPARAGINASE
.
109
AUTO-PROTEOLYTIC
ACTIVATION
OF
RECOMBINANT
FLAVOBACTERIUM
GLYCOSYLASPARAGINASE
.
113
SUMMARY
.
115
9.
MOLECULAR
BIOLOGY
OF
GLYCOSYLASPARAGINASE
.
119
NATHAN
N.
ARONSON,
JR.
CLONING
A
CDNA
FOR
GLYCOSYLASPARAGINASE
.
120
CDNA
OF
HUMAN
GLYCOSYLASPARAGINASE
.
124
CHROMOSOMAL
LOCALIZATION
.
128
GENE
STRUCTURE
.
128
5'-UNTRANSLATED
REGION
.
128
3'-UNTRANSLATED
REGION
.
130
EVOLUTION
OF
GLYCOSYLASPARAGINASE
.
133
10.
GENE
DEFECTS
CAUSING
ASPARTYLGLYCOSAMINURIA
.
137
HYEJEONG
PARK
AND
NATHAN
N.
ARONSON,
JR.
FINNISH
MUTATIONS
.
140
SPLICING
MUTATIONS
.
142
MISSENSE
MUTATIONS
.
144
NONSENSE
MUTATIONS
.
145
INSERTIONS
.
146
DELETIONS
.
.
.
146
GENOMIC
REARRANGEMENTS
.
147
SUMMARY
.
147
11.
CARRIER
DETECTION
IN
ASPARTYLGLYCOSAMINURIA
.
153
EEVA-LIISA
ROMPPANEN
AND
ILKKA
MONONEN
HYBRIDIZATION
WITH
ALLELE-SPECIFIC
OLIGONUCLEOTIDES
.
154
SOLID-PHASE
MINISEQUENCING
.
155
OLIGONUCLEOTIDE
LIGATION
ASSAY
(OLA)
.
157
ATTITUDES
TOWARD
GENETIC
TESTING
.
159
PILOT
CARRIER
TESTING
PROGRAMS
OF
THE
FINNISH-TYPE
AGU
.
159
LEAFLET
FOR
AGU
F]N
GENETIC
COUNSELING
.
160
12.
THERAPEUTIC
ASPECTS
OF
ASPARTYLGLYCOSAMINURIA
.
165
ULLA
DUNDER
AND
ILKKA
MONONEN
CURRENT
THERAPY
IN
LYSOSOMAL
DISORDERS
.
166
BONE
MARROW
TRANSPLANTATION
.
166
ENZYME
REPLACEMENT
THERAPY
.
167
GENE
THERAPY
.
168
IN
VITRO
THERAPY
OF
ASPARTYLGLYCOSAMINURIA
.
168
CURRENT
THERAPY
OF
ASPARTYLGLYCOSAMINURIA
.
172
13.
A
MOUSE
MODEL
FOR
ASPARTYLGLYCOSAMINURIA
.
175
VESA
KAARTINEN,
ILKKA
MONONEN,
NORA
HEISTERKAMP
AND
JOHN
GROJFEN
TARGETING
VECTOR
FOR
MOUSE
AGA
GENE
.
177
PRODUCTION
OF
CORRECTLY
TARGETED
ES-CELL
LINES
.
177
GENERATION
OF
CHIMERIC
AND
AGA-DEFICIENT
MICE
.
177
BIOCHEMICAL
CHARACTERIZATION
OF
AGA
(-/-)
MICE
.
179
HISTOLOGICAL
CHARACTERIZATION
OF
AGA
(-/-)
MICE
.
180
PHENOTYPIC
CHARACTERIZATION
OF
AGA
(-/-)
MICE
.
182
FUTURE
PERSPECTIVES
.
183
14.
CALENDAR
OF
HIGHLIGHTS
IN
ASPARTYLGLYCOSAMINURIA
RESEARCH
.
187
ILKKA
MONONEN
AND
NATHAN
N.
ARONSON,
JR. |
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| genre_facet | Aufsatzsammlung |
| id | DE-604.BV011470811 |
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| indexdate | 2024-08-16T00:23:35Z |
| institution | BVB |
| isbn | 3540628991 |
| language | German |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-007717356 |
| oclc_num | 38286930 |
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| physical | 197 S. Ill., graph. Darst. |
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| spelling | Lysosomal storage disease: aspartylglycosaminuria Ilkka Mononen ... New York ; Berlin ; Heidelberg ; London ; Paris ; Tokyo ; Hong K Springer 1997 Austin, Texas Landes 197 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Medical intelligence unit Literaturangaben Aspartylglycosaminuria Lysosomal Storage Diseases Lysosomal storage diseases Aspartylglykosaminurie (DE-588)4462515-7 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Aspartylglykosaminurie (DE-588)4462515-7 s DE-604 Mononen, Ilkka Sonstige oth DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007717356&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Lysosomal storage disease: aspartylglycosaminuria Aspartylglycosaminuria Lysosomal Storage Diseases Lysosomal storage diseases Aspartylglykosaminurie (DE-588)4462515-7 gnd |
| subject_GND | (DE-588)4462515-7 (DE-588)4143413-4 |
| title | Lysosomal storage disease: aspartylglycosaminuria |
| title_auth | Lysosomal storage disease: aspartylglycosaminuria |
| title_exact_search | Lysosomal storage disease: aspartylglycosaminuria |
| title_full | Lysosomal storage disease: aspartylglycosaminuria Ilkka Mononen ... |
| title_fullStr | Lysosomal storage disease: aspartylglycosaminuria Ilkka Mononen ... |
| title_full_unstemmed | Lysosomal storage disease: aspartylglycosaminuria Ilkka Mononen ... |
| title_short | Lysosomal storage disease: aspartylglycosaminuria |
| title_sort | lysosomal storage disease aspartylglycosaminuria |
| topic | Aspartylglycosaminuria Lysosomal Storage Diseases Lysosomal storage diseases Aspartylglykosaminurie (DE-588)4462515-7 gnd |
| topic_facet | Aspartylglycosaminuria Lysosomal Storage Diseases Lysosomal storage diseases Aspartylglykosaminurie Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007717356&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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