Search Results - "proteins"

Neurodegenerative disease expression levels of normal sequence pathogenic proteins contribute to risk of disease /

Table of Contents: “…Contents: Protein pathology of disease -- Loci underlying autosomal dominant neurodegenerative disease -- Prion mutations causing Gerstmann Straussler syndrome and hereditary Creuzfeldt-Jakob disease -- Tau mutations cause autosomal dominant frontal temporal dementia -- Alpha-synuclein mutations cause autosomal dominant Parkinson's disease -- How genetic variability of these genes contributes to the risk of sporadic disease.…”
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Neurodegenerative disease expression levels of normal sequence pathogenic proteins contribute to risk of disease /

Table of Contents: “…Contents: Protein pathology of disease -- Loci underlying autosomal dominant neurodegenerative disease -- Prion mutations causing Gerstmann Straussler syndrome and hereditary Creuzfeldt-Jakob disease -- Tau mutations cause autosomal dominant frontal temporal dementia -- Alpha-synuclein mutations cause autosomal dominant Parkinson's disease -- How genetic variability of these genes contributes to the risk of sporadic disease.…”
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The molecular biology of Huntington's disease

Table of Contents: “…Contents: Clinical presentations of HD -- Pathological features -- Genetic basis -- Trinucleotide repeat expansion mutation -- Huntingtin protein and cell damage -- Abnormal protein aggregation -- Transcriptional abnormalities -- Raised levels of reactive oxygen species -- Future directions for therapeutic intervention -- siRNA approaches -- Induction of autophagy.…”
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The molecular biology of Huntington's disease

Table of Contents: “…Contents: Clinical presentations of HD -- Pathological features -- Genetic basis -- Trinucleotide repeat expansion mutation -- Huntingtin protein and cell damage -- Abnormal protein aggregation -- Transcriptional abnormalities -- Raised levels of reactive oxygen species -- Future directions for therapeutic intervention -- siRNA approaches -- Induction of autophagy.…”
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Complement in PNH and other hemolytic anaemias part 2 of 3 /

Table of Contents: “…Contents: Genetically defective regulation (somatic) -- PNH: complement–mediated hemolysis -- Flow-cytometry analysis of PNH red cells -- Proteins in the lipid bilayer: GPI-anchors -- Mutations in the PIG-A gene -- Proteins deficient on PNH blood cells -- Mechanism of intravascular hemolysis in PNH -- Mechanism of action of CD59.…”
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The role of MAPT (Tau) in neurodegenerative disease one bullet with many triggers /

Table of Contents: “…Contents: Medical importance of tauopathies -- Microtubule Associated Protein Tau (MAPT) is incorporated into neurofibrillary lesions -- Mutations in the MAPT gene give rise to Frontotemporal dementia with parkinsonism (FTDP-17) -- Common variability in the MAPT, the so-called H1/H1 haplotype and sporadic tauopathies -- Progressive supranuclear Palsy and Cortico-basal degeneration -- Constitutive and conditional transgenic mouse models of tauopathy -- The JNPL3 mouse model of tauopathy -- Neurofibrillary tau pathology in the JNPL3 mice -- A-beta and MAPT pathologies can interact during the development of Alzheimer's disease -- Conditional rTg4510 model of tauopathy -- Major mechanism of neurodegeneration in tauopathy -- Potential therapeutic applications.…”
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The role of MAPT (Tau) in neurodegenerative disease one bullet with many triggers /

Table of Contents: “…Contents: Medical importance of tauopathies -- Microtubule Associated Protein Tau (MAPT) is incorporated into neurofibrillary lesions -- Mutations in the MAPT gene give rise to Frontotemporal dementia with parkinsonism (FTDP-17) -- Common variability in the MAPT, the so-called H1/H1 haplotype and sporadic tauopathies -- Progressive supranuclear Palsy and Cortico-basal degeneration -- Constitutive and conditional transgenic mouse models of tauopathy -- The JNPL3 mouse model of tauopathy -- Neurofibrillary tau pathology in the JNPL3 mice -- A-beta and MAPT pathologies can interact during the development of Alzheimer's disease -- Conditional rTg4510 model of tauopathy -- Major mechanism of neurodegeneration in tauopathy -- Potential therapeutic applications.…”
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Cellular pathways linked to dominant Parkinson's disease

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The neuronal ceroid lipofuscinoses

Table of Contents: “…Contents: Clinical features of the neuronal ceroid lipofuscinoses -- Genetics -- Genotype/phenotype correlations -- Protein epidemiology -- Mechanisms of neurodegeneration -- Treatment approaches.…”
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Cellular pathways linked to dominant Parkinson's disease

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Cellular pathways linked to dominant Parkinson's disease

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Complement in PNH and other hemolytic anaemias part 2 of 3 /

Table of Contents: “…Contents: Genetically defective regulation (somatic) -- PNH: complement–mediated hemolysis -- Flow-cytometry analysis of PNH red cells -- Proteins in the lipid bilayer: GPI-anchors -- Mutations in the PIG-A gene -- Proteins deficient on PNH blood cells -- Mechanism of intravascular hemolysis in PNH -- Mechanism of action of CD59.…”
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Complement in PNH and other hemolytic anaemias part 2 of 3 /

Table of Contents: “…Contents: Genetically defective regulation (somatic) -- PNH: complement–mediated hemolysis -- Flow-cytometry analysis of PNH red cells -- Proteins in the lipid bilayer: GPI-anchors -- Mutations in the PIG-A gene -- Proteins deficient on PNH blood cells -- Mechanism of intravascular hemolysis in PNH -- Mechanism of action of CD59.…”
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Mitochondrial disorders and neurodegeneration

Table of Contents: “…Contents: Mitochondrial structure and function -- Oxidative phosphorylation -- Mitochondrial DNA (mtDNA) structure, replication and maternal inheritance -- Diseases caused by mutations in mtDNA and therapy -- Diseases caused by mutations in nuclear genes coding for mitochondrial proteins.…”
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Astrocytes and Alexander disease the first, but not last, primary astrocyte disease /

Subjects: “…Glial Fibrillary Acidic Protein metabolism.…”
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The neuronal ceroid lipofuscinoses

Table of Contents: “…Contents: Clinical features of the neuronal ceroid lipofuscinoses -- Genetics -- Genotype/phenotype correlations -- Protein epidemiology -- Mechanisms of neurodegeneration -- Treatment approaches.…”
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The neuronal ceroid lipofuscinoses

Table of Contents: “…Contents: Clinical features of the neuronal ceroid lipofuscinoses -- Genetics -- Genotype/phenotype correlations -- Protein epidemiology -- Mechanisms of neurodegeneration -- Treatment approaches.…”
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Complement in PNH and other hemolytic anaemias part 1 of 3 /

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CLL novel prognostics, and updates on therapy - part 2 of 2 /

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Frontotemporal dementia

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