Hypomyelinating leukodystrophy 10 (hld10)-associated mutations of pycr2 form large size mitochondria, inhibiting oligodendroglial cell morphological differentiation

HIGHLIGHTS

• who: Tomohiro Torii and colleagues from the Laboratory of Ion Channel Pathophysiology, Graduate School of Brain Science, Doshisha University, Kyotanabe, Japan have published the research work: Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation, in the Journal: (JOURNAL)
• what: The authors describe how each of the HLD10-associated missense mutations Arg119-to-Cys and Arg251-to-Cys lead to forming in the FBD-102b cell line which is used as an oligodendroglial cell differentiation model.
• future: In the future studies using patient cell and . . .
  

   

  

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