RNA sequencing

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Table of contents

Abbreviations
Preface
Introduction
Hereditary Spastic Paraplegias (HSPs)
Clinical background
Genetic background
Physiopathology and neuropathology
Diagnosis and treatment
Spastic Paraplegia type 4
Clinical and genetic background
Spastin, a microtubule severing protein
The pursuit of genetic modifiers
Learning from other disorders
And what about SPAST-HSP modifiers?
Objectives
Patients and methods – Part 1: Modifiers identification
Patients
SPAST-HSP patient cohort
Genotyped cohort
Exomed cohort
RNA-sequencing cohort
Sequencing, quality control and analysis settings
Genome-wide genotyping
Whole Exome Sequencing (WES)
RNA sequencing
Material and methods – Part 2: Modifiers validation
Drosophila mutant lines
RT-qPCR
Western Immunoblotting
Results – part 1: better alone than in bad company?
SPAST-HSP cohort analysis
Genome-wide linkage analysis
Genome-wide association analysis
Whole Exome Sequencing (WES) analysis
RNA-sequencing
Results – part 2: unity is strength!
Discussion
Conclusions and perspectives
Parodi L, Fenu S, Stevanin G and Durr A. Hereditary spastic paraplegia: More than an upper neuron disease. Rev Neurol (Paris). 2017 May;173(5):352-360
Parodi L, Coarelli G, Stevanin G, Brice A and Durr A. Hereditary ataxias and paraplegias: genetic and clinical update. Curr Opin Neurol. 2018 Aug;31(4):462-471
Parodi L, Rydning SL, Tallaksen C and Durr A. Spastic Paraplegia 4
GeneReviews®[Internet].Seattle WA: University of Washington, Seattle; 1993-2019
References