Functional study of variants in the FBXL4 gene
收藏NIAID Data Ecosystem2026-03-11 收录
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资源简介：
Molecular characterization of new FBXL4 mutations in patients with mtDNA depletion syndrome.
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创建时间：
2019-11-29
相关数据集
Functional study of variants in the FBXL4 gene
Molecular characterization of new FBXL4 mutations in patients with mtDNA depletion syndrome.
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Gene Expression Deregulation in Postnatal Skeletal Muscle of TK2 Deficient Mice Reveals a Lower Pool of Proliferating Myogenic Progenitor Cells
Loss of thymidine kinase 2 (TK2) causes a heterogeneous myopathic form of mitochondrial DNA (mtDNA) depletion syndrome (MDS) in humans that predominantly affects skeletal muscle tissue. In mice, TK2 d
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Transcriptomic changes induced by acute mtDNA depletion in IMR90 cells in the absence of energetic stress
The functional status of mitochondria is relayed by mitochondrial retrograde signaling (MRS) to elicit adaptive changes in nuclear gene expression. However, MRS pathways that sense the amount of the m
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Data_Sheet_1_Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.docx
Mitochondrial DNA depletion syndrome (MDS), characterized by succinate-CoA ligase deficiency and loss of mitochondrial DNA (mtDNA), is caused by specific variants in nuclear genes responsible for mtDN
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Research Data related to article "Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3"
Electropherograms for LIG3 variants in the family members; tables containing values used for graphs reported in figure 1; BAM files of the targeted-NGS analysis.
Zenodo2021-06-10 更新20
