Publications by authors named "F Garces"

Article Synopsis
  • - Phelan-McDermid syndrome (PMS) is a rare genetic disorder linked to the loss of the SHANK3 gene, and while many of its clinical features are known, cardiovascular issues, particularly aortic root dilation (ARD), are less explored.
  • - A study of 59 PMS participants aimed to determine the prevalence of ARD and its potential links to specific genetic variations, particularly focusing on the size of deletions on chromosome 22.
  • - Findings revealed that 14% of participants had ARD, with a statistically significant association between larger chromosome 22 deletions and an increased incidence of ARD, indicating that genetic factors may help identify those at higher risk.
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ABCA4 is an ATP-binding cassette (ABC) transporter that prevents the buildup of toxic retinoid compounds by facilitating the transport of N-retinylidene-phosphatidylethanolamine across membranes of rod and cone photoreceptor cells. Over 1500 missense mutations in ABCA4, many in the nucleotide-binding domains (NBDs), have been genetically linked to Stargardt disease. Here, we show by cryo-EM that ABCA4 is converted from an open outward conformation to a closed conformation upon the binding of adenylyl-imidodiphosphate.

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Multispecific antibodies recognize two or more epitopes located on the same or distinct targets. This added capability through protein design allows these man-made molecules to address unmet medical needs that are no longer possible with single targeting such as with monoclonal antibodies or cytokines alone. However, the approach to the development of these multispecific molecules has been met with numerous road bumps, which suggests that a new workflow for multispecific molecules is required.

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Saccharomyces cerevisiae is the yeast of choice for most inoculated wine fermentations worldwide. However, many other yeast species and genera display phenotypes of interest that may help address the environmental and commercial challenges the wine industry has been facing in recent years. This work aimed to provide, for the first time, a systematic phenotyping of all Saccharomyces species under winemaking conditions.

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Bispecific antibodies are a powerful new class of therapeutics, but their development often requires enormous amounts of time and resources. Here, we describe a high-throughput protocol for cloning, expressing, purifying, and evaluating bispecific antibodies. This protocol enables the rapid screening of large panels of bispecific molecules to identify top candidates for further development.

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