Scientific Publications

ARL6IP1 is implicated in hereditary spastic paraplegia (HSP), but the specific pathogenic mechanism leading to neurodegeneration has not been elucidated. Here, we clarified the molecular mechanism of ARL6IP1 in HSP using in vitro and in vivo models. The Arl6ip1 knockout (KO) mouse model was generated to represent the clinically involved frameshift mutations and mimicked the HSP phenotypes. Notably, in vivo brain histopathological analysis revealed demyelination of the axon and neuroinflammation in the white matter, including the corticospinal tract.

• Link: https://pubmed.ncbi.nlm.nih.gov/37934410/

The majority of familial FTD stems from mutations in Progranulin (GRN gene, PGRN protein) or hexanucleotide (CCCCGG) repeat expansion in C9orf72 gene. Recent studies highlight the key roles of C9orf72 and PGRN in endo-lysosomal trafficking, with their deficiencies causing abnormal microglial activation in the aging brain. Alongside potential interactions between PGRN and C9orf72 in vesicle trafficking, there are documented instances of concurrent mutations in both C9orf72 and GRN genes linked to earlier disease onset and heightened neurodegeneration in familial cases of FTD-ALS spectrum disease.

• Link: https://escholarship.org/uc/item/1nt629c3#main

R-CHOP (rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone) is a standard first-line treatment for diffuse large B-cell lymphoma (DLBCL). However, 20%–40% of patients survive less than 5 years. Novel prognostic biomarkers remain in demand.

• Link: https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.35158

Over 200,000 individuals in the United States alone live with Down Syndrome (DS), the most common genetic disorder associated with intellectual disability. DS has a constellation of features across the body, including dysregulation of the immune system. Individuals with DS have both a higher frequency of autoimmunity and more severe infections than the general population, highlighting the importance of understanding the immune system in this population. Individuals with DS present with dysregulation of both the innate and adaptive immune systems.

• Link: https://onlinelibrary.wiley.com/doi/10.1111/imr.13296

The role of lncRNAs in the pathogenesis of cancer, including colorectal cancer (CRC), has repeatedly been demonstrated. However, very few lncRNAs have been well annotated functionally. Our study identified a novel lncRNA upregulated in CRC, NONHSAT136151, which was correlated with clinical progression. In functional assays, NONHSAT136151 significantly enhanced CRC cell proliferation, migration and invasion. Mechanistically, NONHSAT136151 interacted with RNA-binding protein (RBP) QKI (Quaking) to interfere with QKI binding to target mRNAs and regulate their expression.

• Link: https://onlinelibrary.wiley.com/doi/10.1111/jcmm.18068

We have previously isolated a highly mutated (83% homologous to predicted heavy chain germline) antibody (Ab) termed C group 76-Q13-6F5 (6F5) that targets a conformational epitope on gp41. 6F5, though non-neutralizing, has the capacity to mediate Ab dependent cell cytotoxicity (ADCC). When the variable chain (predicted to be VH1-02 derived) was mutated to germline (termed C group 76 ancestor, or 76Canc), surprisingly this Ab still exhibited significant ADCC activity.

• Link: https://academic.oup.com/ofid/article/10/Supplement_2/ofad500.346/7448046

Studying the potential etiology and pathogenesis of tuberculosis-associated chronic obstructive pulmonary disease (TOPD) from an autoimmunity perspective may provide insights into peripheral blood autoantibodies and immune cells, as well as their interactions.

• Link: https://www.dovepress.com/characteristics-of-serum-autoantibody-repertoire-and-immune-subgroup-v-peer-reviewed-fulltext-article-COPD

Pancreatic ductal adenocarcinoma (PDAC) is a devastating disease that requires precise diagnosis for effective treatment. However, the diagnostic value of carbohydrate antigen 19 − 9 (CA19-9) is limited. Therefore, this study aims to identify novel tumor-associated autoantibodies (TAAbs) for PDAC diagnosis.

• Link: https://cancerci.biomedcentral.com/articles/10.1186/s12935-023-03107-1

To evaluate the potential of zinc finger protein 1 (ZPR1) as a diagnostic biomarker and explore the underlying role for esophageal squamous cell carcinoma (ESCC). A human proteome microarray was customized to identify anti-ZPR1 autoantibody, and enzyme-linked immunosorbent assay (ELISA) was adopted to assess the diagnostic performance of anti-ZPR1 autoantibody in 294 patients with ESCC and 294 normal controls.

• Link: https://onlinelibrary.wiley.com/doi/10.1111/cas.16004

Clonorchiasis, caused by the infection of Clonorchis sinensis (C. sinensis), is a kind of neglected tropical disease, but it is highly related to cholangiocarcinoma. It has been well known that NO from chronic inflammation responses are thought to be a major component of the damage and ultimate carcinogenesis ESPs such as nitric oxide synthase interacting protein (NOSIP) are thought to enhance the damage. The objective of this study was to identify the protein candidates interact with recombinant CsNOSIP (rCsNOSIP) and explore their role involved in CCA development or progression.

• Link: https://journals.plos.org/plosntds/article?id=10.1371/journal.pntd.0011727