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Article

Pathogenic roles of the IMNEPD-associated PTRH2 mutants in aggravating mitochondrial dynamics and its rescue.

Molecular medicine (Cambridge, Mass.) - 10 Mar 2026

Na DoHyeong, Yoo Seungmin, Jeong Muhah, Lee Nahyun, Kim Youngwon, Kim Youbin, Cho Dong-Hyung, Jung Yong-Keun

Abstract excerpt

BACKGROUND: Mitochondrial dynamics, orchestrated by a finely tuned balance between fusion and fission, are critical for cellular homeostasis and development. Dysregulation of these processes has been increasingly implicated in various diseases, including developmental disorders. Although core components, such as mitofusin 1 and 2 (MFN1/2), have been characterized, the broader regulatory network remains...

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Source

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Identifiers

PMID: 41807994
DOI: 10.1186/s10020-026-01452-1
PMCID: PMC13088554

Genes

PTRH2
MFN1
FKBP8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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