WPs » WP8 » Deliverables WP8

Deliverables WP8

 

8.1

Report on the phenotype of motor neurons in vitro transduced with the DCTN1 mutations and TDP-43 mutations

18

 

8.2

Report on the status of lipid metabolism dysfunction in mutant SOD1 mice

18

 

8.3

Genetic screen of 300 morpholinos on the axonopathy induced by mutant SOD1

30

 

8.4

Phenotypic characterization of heterozygous UNC13A deleted mice, and crossbred with SOD1

30

 

8.5

Generation of a mutant TDP-43 and FUS model in zebrafish

30

 

8.6

Generation of iPSCs from sporadic ALS patients and from familial ALS patients with SOD1, FUS, TDP-43 and dynactin mutations; differentiation into motor neurons and glial cells

30

 

8.7

Study of role of EphA4 hit in mutant SOD1 and mutant TDP-43 model in zebrafish and in mutant SOD1 mouse model; study of possible genetic association of EphA4 with ALS

30

 

8.8

A new cell culture system based on primary motoneurons to screen for compounds that interfere with altered axonal mRNA transport

30

 
 

8.9

Bio-bank of motor neuronal cells untransfected or expressing wildtype SOD1 and SOD1G93A exposed/not exposed to metabolic stressors and of  transgenic SOD1G93A mice and rats with different phenotypes (double transgenic with TDP-43 or DCTN1) and at different stages of disease (presymptomatic and final stage of disease)

30

 
 

8.10

Generation of new mouse model with TDP43 M337V and  G348C mutation (month 30) and with FUS R521C and T525L mutation and a report on its fenotype (month 48)

48

 

8.11

Generation of the Rosa26 TDP-43 and Rosa26 FUS (wildtype and mutant) mouse, with cell specific expression

48

 

8.12

Report on the phenotype of mouse models overexpressing the DCTN1 mutations and comparison of pathogenetic features of mouse models (DCTN1 versus SOD models)

48

 

8.13

Report on the effect of HDAC6 and SIRT2 on the axonopathy induced by mutant SOD1 and mutant HSP27

48

 

8.14

Validation of nitroproteins as mechanism-based biomarkers in cellular and animal models of ALS using quantitative redox proteomic tools and antibodies specific for single nitrated proteins (nitroactin)

48

 

8.15

Report on the expression profile and of the mechanism of the PHD mediated modulation of motoneuron disease, study of the downstream effectors of PHDs

48

 

8.16

Report on the role of SCD1 as a key molecular player in muscle metabolic dysfunction and in mutant SOD1 mice

48

 

8.17

Validation of the factors identified in WP2-6 in vitro and in the zebrafish, also when "early hits" are found after WP9 analysis month 30, and month 48

60

 
 

8.18

Evaluation of the therapeutic potential of PHD inhibition in MND

60

 

8.19

Evaluation of new therapeutic strategies based on the influence that altered lipid metabolism exerts on ALS disease contingent on SCD1 expression

60