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14 results for “ND4”
Mass spectrometry data for: A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics
<p><span><strong>Background</strong>:</span> <span>Mitochondria have a central role in cellular functions, aging and in certain diseases. They possess their own genome, a vestige of their bacterial ancestor. Over the course of evolution, most of the genes of the ancestor have been lost or transferred to the nucleus. In humans, the mtDNA is a very small circular molecule with a functional repertoire limited to only 37 genes. Its extremely compact nature with genes arranged one after the other and separated by short non-coding regions suggests that there is little room for evolutionary novelties. This is radically different from bacterial genomes, which are also circular but much larger, and in which we can find genes inside other genes. These sequences, different from the reference coding sequences, are called alternative open reading frames or altORFs, and they are involved in key biological functions. </span><span>However, whether altORFs exist in mitochondrial protein-coding genes or elsewhere in the human mitogenome has not been fully addressed.</span></p> <p><span><strong>Results</strong>:</span> <span>We found a downstream alternative ATG initiation codon in the +3 reading frame of the human mitochondrial <em>nd4</em> gene. This newly characterized altORF encodes a 99-amino acids long polypeptide, MTALTND4, which is conserved in primates. Our custom antibody, but not the pre-immune serum, was able to immunoprecipitate MTALTND4 from HeLa cell lysates, confirming the existence of an endogenous MTALTND4 peptide. The protein is localized in mitochondria and cytoplasm and is also found in the plasma, </span><span>and it impacts cell and mitochondrial physiology. </span></p> <p><span><strong>Conclusions</strong>:</span> <span>Many human-mitochondrial-translated ORFs might have so far gone unnoticed. By ignoring mtaltORFs, we have underestimated the coding potential of the mitogenome.</span> <span>Alternative mitochondrial peptides such as MTALTND4 may offer </span><span>a new framework for the investigation of mitochondrial functions and diseases.</span></p>
Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation
ClinicalTrials.gov study NCT02652767. IPD Sharing: Not stated. Countries: 5. Publications: 3.
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
ClinicalTrials.gov study NCT02652780. IPD Sharing: NO. Countries: 5. Publications: 2.
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
ClinicalTrials.gov study NCT01267422. IPD Sharing: NO. Countries: 1. Publications: 32.
Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
ClinicalTrials.gov study NCT03293524. IPD Sharing: Not stated. Countries: 7. Publications: 1.
Mass spectrometry data for: A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics
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A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy
ClinicalTrials.gov study NCT03153293. IPD Sharing: NO. Countries: 1. Publications: 19.
Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND4 Mutations
ClinicalTrials.gov study NCT05293626. IPD Sharing: NO. Countries: 1. Publications: 0.
Gene expression profiles of hiPSC-derived retinal ganglion cells in MT-ND4 mutated Leber's hereditary optic neuropathy
GEO Series GSE103619. Homo sapiens. 3 samples. Type: Expression profiling by array.
Transfer of mitochondrial DNA into the nuclear genome during gene editing [CBE_ND4 PEM-seq]
GEO Series GSE248509. Homo sapiens. 6 samples. Type: Other.
Transfer of mitochondrial DNA into the nuclear genome during induced DNA breaks [DdCBE_ND4_TREX]
GEO Series GSE272360. Homo sapiens. 18 samples. Type: Other.
Transfer of mitochondrial DNA into the nuclear genome during gene editing [mitoTALEN_ND4 PEM-seq]
GEO Series GSE248510. Homo sapiens. 6 samples. Type: Other.
Transfer of mitochondrial DNA into the nuclear genome during induced DNA breaks [c.MYC_DdCBE_ND4_TREX]
GEO Series GSE272364. Homo sapiens. 24 samples. Type: Other.
Two haplotypes of Aedes aegypti detected by ND4 mitochondrial marker in three regions of Ecuador
<p>Supplementary Material </p>
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OpenNeuro
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