(Ebook) Molecular Mechanisms of Ataxia Telangiectasia 1st Edition by Shamim I Ahmad ISBN 9780429091094 0429091095

1 Clinical Features of AtaxiaTelangiectasia

Ataxia Telangiecatasia

Neurology

Immunodeficiency

Other Features of Ataxia Telangiectasia

Ataxia Telangiectasia Like Disorder (ATLD) and Nijmegen Breakage Syndrome (N B S )

2. Mutations in the Ataxia Telangiectasia Mutated (ATM ) G ene

"Complementation Groups"

AT Variants

Identification of the ATM Gene

Mutations in Classical AT Patients

Mutations in AT Variant Patients

Founder Mutations

Mutations at the ATM Gene and Malignancy

Characteristic ATM Mutations

3. Cell Signaling in Ataxia Telangiectasia

ATM and Radiation-Induced Apoptosis

Recent Research into ATM Function, Radiation-Induced Apoptosis and Radiosensitivity

ATM Signaling and Oxidative Stress

ATM and Insulin Signaling

Perspectives in ATM Signaling Research

4. DNA Damage and Repair in Ataxia Telangiectasia

ATM and Its Central Role in DSB Repair

ATM , the Intra S-Phase Checkpoint and the Regulation o f Origin Firing

ATM and Origin Firing in S-Phase

Artemis and the Role of ATM in the G2/M T ransition

Activation of ATM Kinase: The Role of the MRN Complex and Autophosphorylation

The Role of ATM Autophosphorylation: Discrimination between Kinase Activation and Activity

Modulation of ATM Function in Response to Various Types of Genotoxic Stress

ATM : Coordinating DSB Repair and Chromatin Structure

ATM and Its Accumulation at DNA Repair "Foci"

Murine ATM Models: Revealing the Mechanisms of ATM in DSB Repair in Lymphocytes

ATM and V(D)J Recombination

Class Switch Recombination and ATM : Anchoring DSB Breaks to Suppress Translocations

5. Protein-Protein Interactions in Ataxia Telangiectasia

Sensing DNA Damage

ATM and Cell Cycle Checkpoints

ATM and DSB Repair

ATM and ATR

ATM and Cell Survival

ATM , ATR and Apoptosis

ATM and ATMIN , a Novel Regulator Partner

6. Chromosomal Instability in Ataxia Telangiectasia

Chromosomal Instability and the G 2-Assay

Chromosomal Instability and the G0-Assay

Chromosomal Instability in ATM-Cells

Frequency of Spontaneous Aberrations

Frequency of Radiation Induced Aberrations

Types of Aberrations

7. Cell Cycle Defects and Apoptosis in Ataxia Telangiectasia

DNA Damage and Cell Cycle Progression

ATM Activates Checkpoints

ATM and the G1/S Checkpoint

The Intra-S Checkpoint

G2/M Checkpoint

DNA Damage Induced Cell Death by ATM-Mediated Apoptosis

ATM-Mediated Apoptosis in Neuronal Cells

8. Ataxia Telangiectasia: An Oxidative Stress-Related Disease

A Composite Clinical Phenotype: Seeking a Unified Frame

AT and Mitochondrial Dysfunction

Prospects of Chemoprevention Trials

9. Oncogenesis in Ataxia Telangectasia: Roles of ATM, p53, NF-kB and DDE Recombination Pathogenesis

ATM , V(D)J Recombination and V(D)J Recombination Pathogenesis

Phenotype of ATM Deficiency Confirms a Primary Role of the Protein in Detecting and Signaling Presen

V(D)J Like Recombination Signals at Sites of V(D)J Recombination Pathogenesis

Observations of Recombination Events Associated in the Invertebrate C. elegans as a Model of V(D)J R

Transposons Gone Wild : A Putative Role for Genomic Stress Bypassing ATM through Interactions betwee

Evidence of Additional Specific Interactions between Epstein-Barr Virus (EBV) and V(D)J Recombinatio

10. Ataxia Telangiectasia and Its Overlap with Nijmegen Breakage Syndrome and Ataxia-Like Disorders

Nijmegen Breakage Syndrome

AT-Like Disorder

The RAD50 Gene

Underlying Mechanisms of the Interplay between AT, NBS and ATLD

11. Animal Models for Ataxia Telangiectasia

Mouse Models for AT

Clinical Features of Atm Deficient Mice

Cellular Phenotypes of Atm Deficient Mice

Experimental Disease Prevention in AT

Index