Protein dysfunction in human genetic disease:
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Oxford [u.a.]
BIOS Scientific Publ.
1997
|
| Edition: | 1. publ. |
| Series: | The human molecular genetics series
|
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIV, 258 S. Ill., graph. Darst. |
| ISBN: | 1859960367 |
Staff View
MARC
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| 245 | 1 | 0 | |a Protein dysfunction in human genetic disease |c D. M. Swallow and Y. H. Edwards |
| 250 | |a 1. publ. | ||
| 264 | 1 | |a Oxford [u.a.] |b BIOS Scientific Publ. |c 1997 | |
| 300 | |a XIV, 258 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 0 | |a The human molecular genetics series | |
| 650 | 2 | |a Maladie héréditaire - Génétique | |
| 650 | 2 | |a Protéines - Génétique | |
| 650 | 4 | |a DNA-protein interactions | |
| 650 | 4 | |a Genetic Diseases, Inborn |x genetics | |
| 650 | 4 | |a Genetic disorders | |
| 650 | 4 | |a Genetics, Medical | |
| 650 | 4 | |a Human molecular genetics | |
| 650 | 4 | |a Medical genetics | |
| 650 | 4 | |a Mutation (Biology) | |
| 650 | 4 | |a Mutation |x genetics | |
| 650 | 4 | |a Proteins |x genetics | |
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| 700 | 1 | |a Swallow, Dallas M. |e Sonstige |4 oth | |
| 700 | 1 | |a Edwards, Yvonne H. |e Sonstige |4 oth | |
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Record in the Search Index
| _version_ | 1804126780377792512 |
|---|---|
| adam_text | Contents
Contributors ix
Abbreviations xi
Preface xiii
Foreword xiv
1 Mutation and protein dysfunction. Y.H. Edwards and DM. Swallow 1
Introduction 1
Loss of function 3
Conformational changes 4
Post translational processing 4
Multimeric proteins 5
Protein complexes 7
Gain of function mutations 8
Allelic interactions 10
Analysis of protein structure and crystallography 11
References 12
2 Haemoglobin. J.B. Clegg 15
Introduction 15
Structure and function of normal haemoglobin 15
Haemoglobin disorders 19
Conclusions 29
References 30
3 Glucose 6 phosphate dehydrogenase. J.M. Bautista and L. Luzzatto 33
Introduction 33
Enzymology of normal human G6PD 35
Biochemistry and physiology of G6PD 40
Structural and functional changes in human G6PD variants 43
Conclusions 51
References 51
4 Glycogen storage disease due to phosphorylase kinase deficiency.
M. W. Kilimann 57
Glycogen metabolism: physiology, biochemistry and genetics 57
Biochemistry and genetics of phosphorylase kinase 58
Matching phenotypes and genotypes: defining candidate genes and
finding mutations 63
Common aspects of liver Phk deficiency: three genes, one phenotype 69
Unresolved issues of Phk deficiency 69
Conclusions 71
References 72
vi Contents
5 Factor VIII and haemophilia A. R.J. Kaufman and S. W. Pipe 77
Introduction 77
Factor VIII structure and function 78
Biosynthesis and metabolism of factor VIII 80
Structural requirements for factor VIII function 83
Regulation of factor VIII activity 85
Genetic defects that cause haemophilia A 87
Carrier and antenatal diagnosis 93
The future for haemophilia A therapy 94
References 94
6 GM2 gangliosidosis and structure function relationships in
3 hexosaminidase. D.J. Mahuran 99
Introduction 99
Mutations associated with the GM2 gangliosidoses 104
Structure and function of the active sites of chitobiase and Hex 115
References 117
7 The low density lipoprotein (LDL) receptor and familial
hypercholesterolaemia. 5. Calandra and S. Bertolini 123
Introduction 123
Structure and intracellular processing of the LDL receptor 124
Regulation of LDL receptor gene transcription 126
Classes of functional LDL receptor defects 127
Class 1: failure to produce immunoprecipitable receptor protein 128
Class 2: impairment of intracellular movement 129
Class 3: receptor with reduced ligand binding capacity 132
Class 4: internalization defective receptors 134
Class 5: recycling defective receptors 136
Mutations causing as yet undefined functional defects 137
Mutations producing multiple forms of abnormal receptor 137
High mutability of the LDL receptor locus 138
Conclusions 138
References 138
8 Fibroblast growth factor receptors and their role in human
dysmorphogenesis. U. Schell Hehr, A. Hehr and M. Muenke 145
Introduction 145
Autosomal dominant skeletal disorders caused by FGFR mutations 145
The process of bone ossification 149
The FGF FGFR signalling pathway 149
FGFRs in mammalian embryonic development 151
Human FGFR mutations 152
Unravelling the functional role of the FGF receptor family 154
Summary 159
References 159
Contents vii
9 The retinoblastoma tumour suppressor protein and cancer.
F. Tiemann, K. Musunuru andP.W. Hinds 163
The retinoblastoma susceptibility gene (RBI) 163
pRb and E2F/DP transcription factors 165
Cell cycle dependent regulation of pRb function 169
Mouse models, pRb in development 171
Other pocket proteins 173
The pRb pathway and cancer 175
References 177
10 Rhodopsin mutations in photoreceptor degeneration: implications for
protein dysfunction. S. Bhattacharya, M. Al Maghtheh and C. Inglehearn 187
The aetiology of retinitis pigmentosa 187
Structure of the retina 188
Rhodopsin structure and biochemical properties 191
Phototransduction 194
Rhodopsin mutations in retinitis pigmentosa 195
Correlating phenotype with genotype 195
Rhodopsin mutations: implications for protein dysfunction 198
References 200
11 Spectrin and other red cell membrane proteins in hereditary elliptocytosis
and spherocytosis. M.C. Lecomte, J. Delaunay andD. Dhermy 203
Introduction 203
Spectrin defects in HE and definition of the self association site 204
A common low expression allele oiSPTAl: allele «LELY 211
Other examples of complex effects of multiple mutations 214
References 215
12 Dystrophin and the molecular genetics of muscular dystrophy.
D.J. Blake and K.E. Davies 219
Introduction 219
Duchenne muscular dystrophy: pathology 219
Dystrophin 221
Dystrophin associated proteins 226
Dystrophin related proteins 230
Dystrophin associated proteins and synapse formation 232
The limb girdle and congenital muscular dystrophies 233
Concluding remarks and future perspectives 234
References 235
13 Fatal familial insomnia, Creutzfeldt Jakob disease and the prion
protein. R.B. Petersen, P. Parchi, S. Capellari and P. Gambetti 243
Introduction 243
FFI and CJD178: effect of an intragenic polymorphism 246
viii Contents
Protease resistant prion protein in FFI and CJD 78: implications for
prion strains 247
Effect of the Aspl 78Asn mutation on prion protein processing 249
Concluding remarks 251
References 252
Index 255
|
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| illustrated | Illustrated |
| indexdate | 2024-07-09T18:22:53Z |
| institution | BVB |
| isbn | 1859960367 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-008243188 |
| oclc_num | 38096370 |
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| owner | DE-20 |
| owner_facet | DE-20 |
| physical | XIV, 258 S. Ill., graph. Darst. |
| publishDate | 1997 |
| publishDateSearch | 1997 |
| publishDateSort | 1997 |
| publisher | BIOS Scientific Publ. |
| record_format | marc |
| series2 | The human molecular genetics series |
| spelling | Protein dysfunction in human genetic disease D. M. Swallow and Y. H. Edwards 1. publ. Oxford [u.a.] BIOS Scientific Publ. 1997 XIV, 258 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier The human molecular genetics series Maladie héréditaire - Génétique Protéines - Génétique DNA-protein interactions Genetic Diseases, Inborn genetics Genetic disorders Genetics, Medical Human molecular genetics Medical genetics Mutation (Biology) Mutation genetics Proteins genetics Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 s DE-604 Swallow, Dallas M. Sonstige oth Edwards, Yvonne H. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008243188&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Protein dysfunction in human genetic disease Maladie héréditaire - Génétique Protéines - Génétique DNA-protein interactions Genetic Diseases, Inborn genetics Genetic disorders Genetics, Medical Human molecular genetics Medical genetics Mutation (Biology) Mutation genetics Proteins genetics Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4015106-2 |
| title | Protein dysfunction in human genetic disease |
| title_auth | Protein dysfunction in human genetic disease |
| title_exact_search | Protein dysfunction in human genetic disease |
| title_full | Protein dysfunction in human genetic disease D. M. Swallow and Y. H. Edwards |
| title_fullStr | Protein dysfunction in human genetic disease D. M. Swallow and Y. H. Edwards |
| title_full_unstemmed | Protein dysfunction in human genetic disease D. M. Swallow and Y. H. Edwards |
| title_short | Protein dysfunction in human genetic disease |
| title_sort | protein dysfunction in human genetic disease |
| topic | Maladie héréditaire - Génétique Protéines - Génétique DNA-protein interactions Genetic Diseases, Inborn genetics Genetic disorders Genetics, Medical Human molecular genetics Medical genetics Mutation (Biology) Mutation genetics Proteins genetics Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Maladie héréditaire - Génétique Protéines - Génétique DNA-protein interactions Genetic Diseases, Inborn genetics Genetic disorders Genetics, Medical Human molecular genetics Medical genetics Mutation (Biology) Mutation genetics Proteins genetics Erbkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008243188&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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