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Protein dysfunction in human genetic disease /

Bibliographic Details
Uniform Title:Protein dysfunction in human genetic disease (Print)
Other Authors: Swallow, D. M. (Dallas M.), Edwards, Y. H. (Yvonne H.)
Format: Book
Language:English
Published: Oxford ; Herndon, VA : BIOS Scientific Pub., [1997]
Series:Human molecular genetics series.
Subjects:
Mutation > genetics.
Proteins > genetics.
Genetic Diseases, Inborn > genetics.
Genetics, Medical.
Table of Contents:
  • Mutation and protein dysfunction / Y.H. Edwards and. D.M. Swallow
  • Introduction
  • Loss of function
  • Conformational changes
  • Post-translational processing
  • Multimeric proteins
  • Protein complexes
  • Gain-of-function mutations
  • Allelic interactions
  • Analysis of protein structure and crystallography
  • Haemoglobin / J.B. Clegg
  • Introduction
  • Structure and function of normal haemoglobin
  • Haemoglobin disorders
  • Conclusions
  • Glucose 6-phosphate dehydrogenase / J.M. Bautista and L. Luzzatto
  • Introduction
  • Enzymology of normal human G6PD
  • Biochemistry and physiology of G6PD
  • Structural and functional changes in human G6PD variants
  • Conclusions
  • Glycogen storage disease due to phosphorylase kinase deficiency / M.W. Kilimann
  • Glycogen metabolism: physiology, biochemistry and genetics
  • Biochemistry and genetics of phosphorylase kinase
  • Matching phenotypes and genotypes: defining candidate genes and finding mutations
  • Common aspects of liver Phk deficiency: three genes, one phenotype
  • Unresolved issues of Phk deficiency
  • Conclusions
  • Factor VIII and haemophilia A / R.J. Kaufman and S.W. Pipe
  • Introduction
  • Factor VIII structure and function
  • Biosynthesis and metabolism of factor VIII
  • Structural requirements for factor VIII function
  • Regulation of factor VIII activity
  • Genetic defects that cause haemophilia A
  • Carrier and antenatal diagnosis
  • The future for haemophilia A therapy
  • GM₂ gangliosidosis and structure-function relationships in β-hexosaminidase / D.J. Mahuran
  • Introduction
  • Mutations associated with the GM₂ gangliosidoses
  • Structure and function of the active sites of chitobiase and Hex
  • The low-density lipoprotein (LDL) receptor and familial hypercholesterolaemia / S. Calandra and S. Bertolini
  • Introduction
  • Structure and intracellular processing of the LDL receptor
  • Regulation of LDL receptor gene transcription
  • Classes of functional LDL receptor defects
  • Class 1: failure to produce immunoprecipitable receptor protein
  • Class 2: impairment of intracellular movement
  • Class 3: receptor with reduced ligand-binding capacity
  • Class 4: internalization defective receptors
  • Class 5: recycling-defective receptors
  • Mutations causing as yet undefined functional defects
  • Mutations producing multiple forms of abnormal receptor
  • High mutability of the LDL-receptor locus
  • Conclusions
  • Fibroblast growth factor receptors and their role in human dysmorphogenesis / U. Schell-Hehr, A. Hehr and M. Muenke
  • Introduction
  • Autosomal-dominant skeletal disorders caused by FGFR mutations
  • The process of bone ossification
  • The FGF-FGFR signalling pathway
  • FGFRs in mammalian embryonic development
  • Human FGFR mutations
  • Unravelling the functional role of the FGF receptor family
  • Summary
  • The retinoblastoma tumour suppressor protein and cancer / F. Tiemann, K. Musunuru and P.W. Hinds
  • The retinoblastoma susceptibility gene (RBl)
  • pRb and E2F/DP transcription factors
  • Cell cycle-dependent regulation of pRb function
  • Mouse models, pRb in development
  • Other pocket proteins
  • The pRb pathway and cancer
  • Rhodopsin mutations in photoreceptor degeneration: implications for protein dysfunction / S. Bhattacharya, M. Al-Maghtheh and C. Inglehearn
  • The aetiology of retinitis pigmentosa
  • Structure of the retina
  • Rhodopsin structure and biochemical properties
  • Phototransduction
  • Rhodopsin mutations in retinitis pigmentosa
  • Correlating phenotype with genotype
  • Rhodopsin mutations: implications for protein dysfunction
  • Spectrin and other red cell membrane proteins in hereditary elliptocytosis and spherocytosis / M.C. Lecomte, J. Delaunay and D. Dhermy
  • Introduction
  • Spectrin defects in HE and definition of the self-association site
  • A common low expression allele of SPTA1: allele αLELY
  • Other examples of complex effects of multiple mutations
  • Dystrophin and the molecular genetics of muscular dystrophy / D.J. Blake and K.E.Davies
  • Introduction
  • Duchenne muscular dystrophy: pathology
  • Dystrophin
  • Dystrophin-associated proteins
  • Dystrophin-related proteins
  • Dystrophin-associated proteins and synapse formation
  • The limb girdle and congenital muscular dystrophies
  • Concluding remarks and future perspectives
  • Fatal familial insomnia, Creutzfeldt-Jakob disease and the prion protein / R.B. Petersen [et al.]
  • Introduction
  • FFI and CJD¹⁷⁸: effect of an intragenic polymorphism Protease-resistant prion protein in FFI and CJD¹⁷⁸: implications for prion strains
  • Effect of the Asp178Asn mutation on prion protein processing
  • Concluding remarks.