Role of the UNC13 family in human diseases: A literature review
This literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and crucial for synaptic vesicle priming and exocytosis...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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AIMS Press
2023-12-01
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| Series: | AIMS Neuroscience |
| Subjects: | |
| Online Access: | https://www.aimspress.com/article/doi/10.3934/Neuroscience.2023029?viewType=HTML |
| _version_ | 1827391326129225728 |
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| author | Ubaid Ansari Vincent Chen Romteen Sedighi Burhaan Syed Zohaer Muttalib Khadija Ansari Fatima Ansari Denise Nadora Daniel Razick Forshing Lui |
| author_facet | Ubaid Ansari Vincent Chen Romteen Sedighi Burhaan Syed Zohaer Muttalib Khadija Ansari Fatima Ansari Denise Nadora Daniel Razick Forshing Lui |
| author_sort | Ubaid Ansari |
| collection | DOAJ |
| description | This literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and crucial for synaptic vesicle priming and exocytosis, have been implicated in a range of disorders, spanning from neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to immune-related conditions such as familial hemophagocytic lymphohistiocytosis (FHL). The involvement of UNC13A in neurotransmitter release and synaptic plasticity is linked to ALS and FTD, with genetic variations affecting disease progression. UNC13B, which is closely related to UNC13A, plays a role in autism spectrum disorders (ASD), epilepsy, and schizophrenia. UNC13C is implicated in oral squamous cell carcinoma (OSCC) and hepatocellular carcinoma (HCC), and has a neuroprotective role in Alzheimer's disease (AD). UNC13D has an essential role in immune cell function, making it a key player in FHL. This review highlights the distinct molecular functions of each UNC13 family member and their implications in disease contexts, shedding light on potential therapeutic strategies and avenues for future research. Understanding these proteins' roles offers new insights into the management and treatment of neurological and immunological disorders. |
| first_indexed | 2024-03-08T17:08:52Z |
| format | Article |
| id | doaj.art-69faaae26e564092b0a59b8eb1dea90c |
| institution | Directory Open Access Journal |
| issn | 2373-7972 |
| language | English |
| last_indexed | 2024-03-08T17:08:52Z |
| publishDate | 2023-12-01 |
| publisher | AIMS Press |
| record_format | Article |
| series | AIMS Neuroscience |
| spelling | doaj.art-69faaae26e564092b0a59b8eb1dea90c2024-01-04T01:22:47ZengAIMS PressAIMS Neuroscience2373-79722023-12-0110438840010.3934/Neuroscience.2023029Role of the UNC13 family in human diseases: A literature reviewUbaid Ansari0Vincent Chen 1Romteen Sedighi2Burhaan Syed3Zohaer Muttalib4Khadija Ansari5Fatima Ansari6Denise Nadora7Daniel Razick 8Forshing Lui9California Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USA California Northstate University College of Medicine, USA California Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USACalifornia Northstate University College of Medicine, USAThis literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and crucial for synaptic vesicle priming and exocytosis, have been implicated in a range of disorders, spanning from neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to immune-related conditions such as familial hemophagocytic lymphohistiocytosis (FHL). The involvement of UNC13A in neurotransmitter release and synaptic plasticity is linked to ALS and FTD, with genetic variations affecting disease progression. UNC13B, which is closely related to UNC13A, plays a role in autism spectrum disorders (ASD), epilepsy, and schizophrenia. UNC13C is implicated in oral squamous cell carcinoma (OSCC) and hepatocellular carcinoma (HCC), and has a neuroprotective role in Alzheimer's disease (AD). UNC13D has an essential role in immune cell function, making it a key player in FHL. This review highlights the distinct molecular functions of each UNC13 family member and their implications in disease contexts, shedding light on potential therapeutic strategies and avenues for future research. Understanding these proteins' roles offers new insights into the management and treatment of neurological and immunological disorders.https://www.aimspress.com/article/doi/10.3934/Neuroscience.2023029?viewType=HTMLunc13neurotransmissionamyotrophic lateral sclerosisfrontotemporal dementiafamilial hemophagocytic lymphohistiocytosisautism spectrum disordersoral squamous cell carcinomahepatocellular carcinomaalzheimer's disease |
| spellingShingle | Ubaid Ansari Vincent Chen Romteen Sedighi Burhaan Syed Zohaer Muttalib Khadija Ansari Fatima Ansari Denise Nadora Daniel Razick Forshing Lui Role of the UNC13 family in human diseases: A literature review AIMS Neuroscience unc13 neurotransmission amyotrophic lateral sclerosis frontotemporal dementia familial hemophagocytic lymphohistiocytosis autism spectrum disorders oral squamous cell carcinoma hepatocellular carcinoma alzheimer's disease |
| title | Role of the UNC13 family in human diseases: A literature review |
| title_full | Role of the UNC13 family in human diseases: A literature review |
| title_fullStr | Role of the UNC13 family in human diseases: A literature review |
| title_full_unstemmed | Role of the UNC13 family in human diseases: A literature review |
| title_short | Role of the UNC13 family in human diseases: A literature review |
| title_sort | role of the unc13 family in human diseases a literature review |
| topic | unc13 neurotransmission amyotrophic lateral sclerosis frontotemporal dementia familial hemophagocytic lymphohistiocytosis autism spectrum disorders oral squamous cell carcinoma hepatocellular carcinoma alzheimer's disease |
| url | https://www.aimspress.com/article/doi/10.3934/Neuroscience.2023029?viewType=HTML |
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