Ccdc88C Protein plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Ccdc88C Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@van2019]
CCDC88C (Coiled-Coil Domain Containing Protein 88C), also known as Daipring, is a large neuronal scaffolding protein essential for Purkinje cell development, dendritic morphogenesis, and synaptic plasticity. [@takayama2014]
Ccdc88C Protein plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Ccdc88C Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@van2019]
CCDC88C (Coiled-Coil Domain Containing Protein 88C), also known as Daipring, is a large neuronal scaffolding protein essential for Purkinje cell development, dendritic morphogenesis, and synaptic plasticity. [@takayama2014]
C-terminal Region: Involved in signaling complex assembly
Structural Features:
Very large protein with multiple coiled-coil domains
Predominantly alpha-helical structure
Multiple protein-protein interaction motifs
Normal Function
Neuronal Development:
Purkinje Cell Dendritogenesis: Essential for proper dendritic tree development
Spinogenesis: Regulates dendritic spine formation and maintenance
Synaptogenesis: Coordinates synapse formation
Synaptic Plasticity:
Modulates cerebellar long-term depression (LTD)
Organizes postsynaptic signaling complexes
Regulates parallel fiber-Purkinje cell synapse function
Signaling Scaffold:
Binds to various neuronal signaling proteins
Organizes cytoskeletal regulatory complexes
Facilitates protein kinase/phosphatase signaling
Role in Disease
Spinocerebellar Ataxia Type 15:
Heterozygous CCDC88C mutations cause SCA15
Pure cerebellar ataxia with gait and limb ataxia
Onset in 3rd-6th decade
Disease mechanism: Haploinsufficiency
Adult-Onset Cerebellar Ataxia:
Similar to SCA15 but later onset
Slowly progressive
Purkinje cell degeneration
Intellectual Disability:
Biallelic CCDC88C mutations in severe cases
Developmental delay, ID, ataxia
More severe phenotype with complete loss
Autism Spectrum Disorder:
Rare CCDC88C variants in ASD patients
Possible role in synaptic development
Therapeutic Targeting
Ataxia Management:
Physical therapy for balance and coordination
Occupational therapy for daily activities
Speech therapy if dysarthria present
Disease-Modifying Approaches:
AAV gene therapy to restore CCDC88C expression
Small molecules to enhance Purkinje cell function
Neuroprotective strategies
Overview
Ccdc88C Protein plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Ccdc88C Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
[Related Topics](/index)
External Links
References
[Tsutsumi M, et al, (2015) (2015)](https://pubmed.ncbi.nlm.nih.gov/26468899/)
[van Rens J, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31613351/)
[Takayama K, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/25194867/)
[Onodera O, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31613352/)
[Wang PS, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31168823/)