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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases

Esra Ermis Akyuz1, Sandra M Bell1

  • 1Division of Molecular Medicine, Leeds Institute of Medical Research, St James's University Hospital, University of Leeds, Leeds LS9 7TF, UK.

Genes
|December 23, 2022
PubMed

Insights

CUB and Sushi Multiple Domains 1 (CSMD1) is a tumor suppressor gene involved in cell functions. Understanding its role in cancer, neurodevelopment, and immunity may lead to new diagnostic and treatment strategies.

Area of Science:

  • Molecular Biology
  • Immunology
  • Genetics

Background:

  • CUB and Sushi Multiple Domains 1 (CSMD1) encodes a transmembrane protein with a potential tyrosine phosphorylation site.
  • CSMD1's precise functions are not fully understood but it is implicated in cellular processes and diseases.

Purpose of the Study:

  • To review the functions of CSMD1 in cellular processes like the complement system, metastasis, and Epithelial-Mesenchymal Transition (EMT).
  • To summarize CSMD1's involvement in diseases including schizophrenia, Parkinson's disease, and various cancers.
  • To highlight CSMD1's emerging role in cancer immunotherapy response.

Main Methods:

  • Literature review of studies on CSMD1 functions and disease associations.
  • Analysis of CSMD1's role in complement pathways, metastasis, and EMT.
  • Examination of CSMD1's involvement in neurological disorders and cancer progression.

Main Results:

  • CSMD1 plays a role in complement control, metastasis, and EMT.
  • CSMD1 is associated with schizophrenia, Parkinson's disease, and cancer progression.
  • Emerging evidence links CSMD1 to immunotherapy response in gastric, oesophageal, and head and neck cancers.

Conclusions:

  • Further clarification of CSMD1's disease associations can aid in developing novel diagnostic and therapeutic approaches.
  • CSMD1 is a promising target for understanding and treating complex diseases and improving cancer immunotherapy outcomes.
Keywords:
CSMD1Parkinson’s diseasecancercomplement systemschizophrenia

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