Our antibodies are used in cutting-edge neuroscience research around the world. Let's take a look at three recent studies showing our antibodies in action.

Today we focus on ER-mitochondria signaling in post-mortem Alzheimer's disease brain, novel autoantibodies from the serum of patients with melanoma-associated retinopathy, and proteins causing neurodevelopmental disorders.

1) Disruption of endoplasmic reticulum-mitochondria tethering proteins in post-mortem Alzheimer's disease brain

Organelle-organelle communication between the endoplasmic reticulum (ER) and mitochondria is critical in organelle signaling. Many of the functions regulated by ER-mitochondria signaling are disrupted in cell and transgenic models of Alzheimer's disease. However, there is little evidence that ER-mitochondria signaling is altered in human Alzheimer's disease brains.  

In this study, the authors looked at the ER-mitochondria tethering proteins VAPB and PTPIP51 in post-mortem human Alzheimer's disease brains. The VAPB-PTPIP51 tethers are now known to regulate several ER-mitochondria signaling functions.

They found that VAPB and PTPIP51 are reduced in late-stage Alzheimer's disease in the cortex but not the cerebellum. In addition, a correlation was seen between the loss of VABP in the temporal cortex and the reductions in PTPI51, revealing a novel pathological feature in Alzheimer's disease.

Our polyclonal antibodies, anti-PTPIP51/RMDN3 (HPA009975) and anti-SigmaR1 (HPA018002) were used in the study with PLA and western blot.

Ref: Lau DHW, Paillusson S, Hartopp N, et al. Disruption of endoplasmic reticulum-mitochondria tethering proteins in post-mortem Alzheimer's disease brain. Neurobiol Dis. 2020;143:105020. doi:10.1016/j.nbd.2020.105020

2. Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy 

Melanoma-associated retinopathy (MAR) is a rare paraneoplastic autoimmune retinal disorder usually occurring with metastatic melanoma. MAR is characterized by the production of autoantibodies targeting retinal proteins, particularly against TRPM1. This study demonstrates that patients presenting different anti-TRPM1 autoantibodies react to the three isoforms of TRPM1 with variable binding affinity.

The results suggest that a combination of different methods should be used to test for the presence of anti-TRPM1 autoantibodies in the sera of MAR patients.

This study used our polyclonal anti-TRPM1 (HPA014779) antibody in ICC-IF and WB.

Ref: Varin J, Reynolds MM, Bouzidi N, Tick S, Wohlschlegel J, Becquart O, et al. Identification and characterization of novel TRPM1 autoantibodies from the serum of patients with melanoma-associated retinopathy. PLoS ONE 2020;15(4): e0231750.

3) Loss of PHF6 leads to aberrant development of human neuron-like cells

Pathogenic variants in PHF6 cause the X-linked neurodevelopmental disorder Borjeson–Forssman–Lehmann syndrome (BFLS). In this study, the authors found evidence that de novo variants occurring in females are more severe and result in loss of PHF6, contributing to the different phenotypes in male versus female individuals. In addition, knockout of PHF6 in neuron-like cells was examined to study related consequences of PHF6 loss.

The authors could demonstrate that intact PHF6 is necessary for proper neuron proliferation, neurite outgrowth, and migration. Impairment of these processes could contribute to the neurodevelopmental and cognitive dysfunction in BFLS.

This study used our polyclonal anti-PHF6 antibody (HPA001023) in immunofluorescence. 

Ref: Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C. Loss of PHF6 leads to aberrant development of human neuron‑like cells. Scientific Reports 2020;10:19030.  

Did you find this post interesting?

Take a look at other studies that have successfully utilized our antibodies.

Research roundup: diagnostic and prognostic cancer markers

Research Roundup: cell biology

Research roundup: neuroscience

Have you published a paper using our antibodies? Let us know!