Accueil
Tomoki Nomakuchi
Tomoki Nomakuchi
Affiliations
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Publications (4)
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
bioRxiv : the preprint server for biology
Avec:
Audrey G O'Neill
,
Anika L Burrell
,
Michael Zech
,
Orly Elpeleg
,
Tamar Harel
,
Simon Edvardson
,
Hagar Mor Shaked
,
Alyssa L Rippert
,
Tomoki Nomakuchi
,
Kosuke Izumi
,
Justin M Kollman
Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.
Nature communications
Avec:
Young Jin Kim
,
Tomoki Nomakuchi
,
Foteini Papaleonidopoulou
,
Lucia Yang
,
Qian Zhang
,
Adrian R Krainer
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
The Journal of biological chemistry
Avec:
Audrey G O'Neill
,
Anika L Burrell
,
Michael Zech
,
Orly Elpeleg
,
Tamar Harel
,
Simon Edvardson
,
Hagar Mor-Shaked
,
Alyssa L Rippert
,
Tomoki Nomakuchi
,
Kosuke Izumi
,
Justin M Kollman
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy.
Cell
Avec:
Luciano E Marasco
,
Gwendal Dujardin
,
Rui Sousa-Luís
,
Ying Hsiu Liu
,
Jose N Stigliano
,
Tomoki Nomakuchi
,
Nick J Proudfoot
,
Adrian R Krainer
,
Alberto R Kornblihtt
Réseau de co-auteurs
Audrey G O'Neill
2 collaborations
Anika L Burrell
2 collaborations
Michael Zech
2 collaborations
Orly Elpeleg
2 collaborations
Tamar Harel
2 collaborations
Simon Edvardson
2 collaborations
Alyssa L Rippert
2 collaborations
Kosuke Izumi
2 collaborations
Justin M Kollman
2 collaborations
Adrian R Krainer
2 collaborations
Hagar Mor Shaked
1 collaboration
Young Jin Kim
1 collaboration
Foteini Papaleonidopoulou
1 collaboration
Lucia Yang
1 collaboration
Qian Zhang
1 collaboration
Hagar Mor-Shaked
1 collaboration
Luciano E Marasco
1 collaboration
Gwendal Dujardin
1 collaboration
Rui Sousa-Luís
1 collaboration
Ying Hsiu Liu
1 collaboration
Jose N Stigliano
1 collaboration
Nick J Proudfoot
1 collaboration
Alberto R Kornblihtt
1 collaboration