Author

Sumanty Tohari

Agency for Science, Technology and Research

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 2 Organism:mouse· 2 Assay:proteomics· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Alvin Yu Jin NgiD· 3 shared Bruno ReversadeiD· 3 shared Byrappa VenkateshiD· 3 shared Carine BonnardiD· 3 shared Gunaseelan NarayananiD· 2 shared Liang Juin TaniD· 2 shared Ain Nur Ali· 1 shared Ajay Sriram MathuruiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alvin Yu Jin NgORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes

Franziska Paul, Hui Wang, Jianqin Wang, Liang Juin Tan, Crystal Y. Chia, Li Sun, Hui Jen Goh, Mark Kelly, Suresh Anand Sadananthan, Gunaseelan Narayanan, Lawrence M. Lifshitz, S. Sendhil Velan, Sarah M. C. Nicoloro, Sumanty Tohari, Alvin Yu Jin Ng, , Bruno Reversade

This study identifies a dominant CIDEC variant causing familial obesity by increasing lipid droplet size in adipocytes through structural and functional changes.

medRxiv · Jul 28, 2025 · PreprintGenetic & Genomic Medicine

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

Carine Bonnard, Ain Nur Ali, Yuan Fang, Kiat Y. Tan, Yan T. Lim, Puck Wee Chan, Nardev Ramanathan, Nur A.B.M. Kamsani, Vindhya Chaganty, Ding Xiong, Ye Sing Tan, Shu-Min Chou, Marwa Chourabi, Gunaseelan Narayanan, Alvin Yu Jin Ng, , Bruno Reversade

This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.

medRxiv · Oct 23, 2024 · PreprintGenetic & Genomic Medicine

Ermin deficiency as an inside-out model of inflammatory dysmyelination

Amin Ziaei, Marta Garcia‐Miralles, Carola I. Radulescu, Harwin Sidik, Aymeric Silvin, Han‐Gyu Bae, Carine Bonnard, Nur Amirah Binte Mohammad Yusof, Costanza Ferrari Bardile, Liang Juin Tan, Alvin Yu Jin Ng, Sumanty Tohari, Leila Dehghani, Lily Henry, Xin Yi Yeo, , Mahmoud A. Pouladi

This study shows that Ermin deficiency causes myelin abnormalities and inflammation, leading to neurological deficits and increased susceptibility to demyelination, suggesting it as an 'inside-out' model for inflammatory dysmyelination.

Brain Pathology · Mar 13, 2022Peer-reviewedNeuroscience