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Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.
Neurol Genet
February 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.
Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.
View Article and Find Full Text PDFBridging the gap in customised housing design: Integrating a graphic user interface for user collaboration.
PLoS One
December 2024
ISTAR, Instituto Universitário de Lisboa (ISCTE-IUL), Lisbon, Portugal.
This research addresses housing customisation by using digital tools in co-design processes. This paper introduces the development of a Graphical User Interface (GUI) that assists the end-users' interaction with the design process. Although the participation of end users in the design process is considered essential, a communication gap persists between designers and end users, and there is a lack of tools to help inhabitants express their needs and desires.
View Article and Find Full Text PDFExploring the Structure-Function Relationships in a 5-Aminolevulinic Acid Synthase and the Use of Protein Engineering to Expand its Substrate Range.
Biochemistry
January 2025
Department of Chemistry, University of Florida, 126 Sisler Hall, Gainesville, Florida 32611, United States.
5-Aminolevulinate synthase (ALAS) is a PLP-dependent enzyme that catalyzes the production of 5-aminolevulinate from succinyl-CoA and glycine. Its ability to catalyze the essentially irreversible - bond formation has significant potential in chemoenzymatic synthesis of α-amino ketones. Native ALAS, unfortunately, is extremely substrate-selective, and this seriously limits its synthetic utility.
View Article and Find Full Text PDFCompressing human brain activity for studying brain function.
PLoS Biol
December 2024
Montréal Neurological Institute, McGill University, Montréal, Canada.
Due to its complexity and size, the optimal scale or level at which to describe the brain remains an open question in neuroscience. A new study published in PLOS Biology shows that simplifying complex brain recordings makes them more useful for studying brain function.
View Article and Find Full Text PDFBackground: The transition to adult health care is challenging for adolescents and young adults (AYA) with Chronic Granulomatous Disease (CGD). This pilot study aimed to facilitate the learning of AYA with CGD about their health care and to aid in the development of life skills to enhance self-care.
Methods: AYA and caregivers (for participants <18 years of age) completed an adapted Transition Readiness Assessment.
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