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