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Deciphering the function and mechanisms of C9ORF72 in ALS
Published on Jul 21, 2017859 Views
ALS has a major genetic contribution, the most common genetic abnormality being the GGGGCC hexanucleotide repeat expansion (HRE) in the C9ORF72 gene. Proposed mechanisms concerning C9ORF72 mutatio
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Chapter list
Deciphering the function and mechanisms of C9ORF72 in ALS00:00
Genetics of Amyotrophic Lateral Sclerosis00:16
Autophagy in amyotrophic lateral sclerosis00:52
Pathogenicity of C9ORF72 mutation01:39
Function of C9ORF7202:29
ALS-related C9orf72 and Sqstm1 zebrafish models - 102:51
ALS-related C9orf72 and Sqstm1 zebrafish models - 203:16
ALS-related C9orf72 and Sqstm1 zebrafish models - 303:45
ALS-related C9orf72 and Sqstm1 zebrafish models - 403:52
ALS-related C9orf72 and Sqstm1 zebrafish models - 504:08
C9ORF72 and SQSTM1 convergence - 104:21
C9ORF72 and SQSTM1 convergence - 204:41
C9orf72 and Sqstm1 epistatic interaction05:01
C9orf72 and Sqstm1 knockdowns have an additive effect05:27
SQSTM1 is not able to rescue C9orf72 loss of function05:39
C9ORF72 rescues Sqstm1 loss of function - 105:56
C9ORF72 rescues Sqstm1 loss of function - 206:05
Mechanisms of C9ORF72 mutation06:16
GP100 accumulate under C9orf72 inhibition - 106:31
GP100 accumulate under C9orf72 inhibition - 206:45
GP100 lead to a motor phenotype under C9orf72 knockdown - 107:01
GP100 lead to a motor phenotype under C9orf72 knockdown - 207:20
GP100 induce abnormalities in motor neurons morphology07:32
GP100 induce loss of motor neurons07:50
Mechanisms of C9ORF72 mutation08:04
Conclusion and perspectives - 108:19
Conclusion and perspectives - 208:40
Conclusion and perspectives - 308:54
Conclusion and perspectives - 409:09
Conclusion and perspectives - 509:22
Acknowledgments09:31