News - Page 59 of 80 - Yokohama City University

2021-04-19

Moving toward generalizable NZ-1 labeling for 3D structure determination with optimized epitope-tag insertion

Antibody labeling has been conducted extensively for structure determination using both X-ray crystallography and electron microscopy (EM). However, establishing target-specific antibodies is a prerequisite for applying antibody-assisted structural analysis. To expand the applicability of this strategy, an alternative method has been developed to prepare an antibody complex by inserting an exogenous epitope into the target.

2021-04-16

Medical Education Amidst the COVID-19 Pandemic (International Online Exchange with NUS)

On January 29th 2021, the School of Medicine successfully conducted the International Online Exchange event “Medical Education Amidst the COVID-19 Pandemic” with the National University of Singapore (NUS). This is the second trial of this activity at the School of Medicine being solely online since the onset of the COVID-19 Pandemic.

2021-04-09

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V-ATPases, which is strongly expressed in neurons. However, its role in brain development is unknown. Here we report four individuals with developmental and epileptic encephalopathy with ATP6V0A1 variants: two individuals with a de novo missense variant (R741Q) and the other two individuals with biallelic variants comprising one almost complete loss-of-function variant and one missense variant (A512P and N534D). Lysosomal acidification is significantly impaired in cell lines expressing three missense ATP6V0A1 mutants.

2021-04-02

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

UBA1 was examined in 13 of the 14 patients; 73% (8/11) of the male patients had somatic UBA1 variants (c.121A>C, c.121A>G or c.122T>C resulting in p.Met41Leu, p.Met41Val or p.Met41Thr, respectively). All the variant-positive patients had systemic symptoms, including a significantly high prevalence of skin lesions. ddPCR detected low prevalence (0.14%) of somatic variant (c.121A>C) in one female patient, which was subsequently confirmed by PNA-clamping PCR.