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Study · In vitro (cells) · 2019

2 results

PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction.

Zhou W, Ma D, Sun AX, Tran HD, Ma DL, Singh BK, Zhou J, Zhang J, Wang D, Zhao Y, Yen PM, Goh E, Tan EK

Human molecular genetics1 Apr 2019Cited by 62 (Europe PMC)

PMID30496485 (opens in a new tab)PMCIDPMC6423417 (opens in a new tab)DOI10.1093/hmg/ddy413 (opens in a new tab)PepBankPUB-30496485
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Summary

The text of this summary is not shown here, because the article license does not allow reuse. Read it at the source (opens in a new tab)

Text rights: CC BY-NC. Results still quote short attributed sentences.

Results from this study2

2 results from studies that gave the peptide. No result from this study comes from people.

  1. 01LabIn vitro (cells)Mechanism

    In neural progenitor cells with the CHCHD2 R145Q mutation, elamipretide enhanced CHCHD2 and MICOS.

    In plain wordsIn lab-grown nerve precursor cells with a Parkinson's-linked mutation, elamipretide raised levels of CHCHD2 and MICOS proteins.

    Peptide
    Elamipretide (SS-31)
    Outcome
    IncreaseCHCHD2 and MICOS component levels
    Study

    humann: not reported in source

    Isogenic neural progenitor cells with heterozygous CHCHD2 R145Q
    Outcome group
    Mitochondrial function · Nervous system and cognition
    Studied dose
    Dose not stated

    Source sentences

    Summary
    was found to enhance CHCHD2 with MICOS and mitochondria oxidative phosphorylation enzymes in isogenic NPCs harboring heterozygous R145Q
    1 context sentence
    Summary · context
    In the current study, we generated isogenic human embryonic stem cell (hESC) lines harboring PD-associated CHCHD2 mutation R145Q or Q126X via clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9) method, aiming to unravel pathophysiologic mechanism and…
  2. 02LabIn vitro (cells)Mechanism

    In neural progenitor cells with the CHCHD2 R145Q mutation, elamipretide enhanced mitochondrial oxidative phosphorylation enzymes.

    In plain wordsIn lab-grown nerve precursor cells with a Parkinson's-linked mutation, elamipretide raised levels of mitochondrial energy-making enzymes.

    Peptide
    Elamipretide (SS-31)
    Outcome
    IncreaseOxidative phosphorylation enzyme levels
    Study

    humann: not reported in source

    Isogenic neural progenitor cells with heterozygous CHCHD2 R145Q
    Outcome group
    Mitochondrial function · Nervous system and cognition
    Studied dose
    Dose not stated

    Source sentences

    Summary
    was found to enhance CHCHD2 with MICOS and mitochondria oxidative phosphorylation enzymes in isogenic NPCs harboring heterozygous R145Q
    1 context sentence
    Summary · context
    In the current study, we generated isogenic human embryonic stem cell (hESC) lines harboring PD-associated CHCHD2 mutation R145Q or Q126X via clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9) method, aiming to unravel pathophysiologic mechanism and…

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Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 2Current

    10 Oct 2026, 08:19 UTC

    Study results updated

  2. Version 1

    9 Oct 2026, 02:47 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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