DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation andmetabolic remodeling

Article Genetics & Heredity

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Ella F. Whittle et al.

Summary: This study aimed to identify the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Through clinical characterization and genetic analysis, the researchers identified three novel homozygous variants in the OGDH gene. Functional studies demonstrated that these variants interfered with the structure and function of the OGDH protein, leading to the observed neurodevelopmental disorder. This research highlights the importance of studying genetic causes of neurodevelopmental disorders for understanding their underlying mechanisms and developing targeted therapies.

GENETICS IN MEDICINE (2023)

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Review Medicine, General & Internal

A review of the mechanism of succinylation in cancer

Keer Lu et al.

Summary: Lysine succinylation is a non-enzymatic protein post-translational modification that greatly influences protein function and various signaling pathways. It is involved in multiple life activities and plays a role in tumorigenesis and the mechanism of certain anti-cancer drugs.

MEDICINE (2022)

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Article Biochemical Research Methods

Systematic Proteome and Lysine Succinylome Analysis Reveals Enhanced Cell Migration by Hyposuccinylation in Esophageal Squamous Cell Carcinoma

Zhenchang Guo et al.

Summary: Esophageal squamous cell carcinoma (ESCC) is a aggressive malignancy with poor therapeutic outcomes. The alterations in proteins and posttranslational modifications (PTMs) leading to the pathogenesis of ESCC remain unclear. This study identifies abnormal protein and PTM pathways, including significantly downregulated lysine succinylation sites in cancer cells. Additionally, the restoration of succinylation inhibits cancer cell migration and negatively regulates histone methylation to promote cancer migration.

MOLECULAR & CELLULAR PROTEOMICS (2021)

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Article Biochemistry & Molecular Biology

Structure of the dihydrolipoamide succinyltransferase (E2) component of the human alpha-ketoglutarate dehydrogenase complex (hKGDHc) revealed by cryo-EM and cross-linking mass spectrometry: Implications for the overall hKGDHc structure

Balint Nagy et al.

Summary: The E2 component of the human mitochondrial alpha-ketoglutarate dehydrogenase complex (hKGDHc) has been studied using cryo-EM, cross-linking mass spectrometry (CL-MS), and molecular modeling analyses, revealing a core structure composed of 24 chains organized in an octahedral assembly. This structural information will be crucial for pharmacological targeting of hKGDHc in the future.

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2021)

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Article Genetics & Heredity