Dysferlin Exon 32 Skipping in Patient Cells.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_31
Abstract: Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of… read more here.
Keywords: patient cells; biology; skipping patient; dysferlin exon ... See more keywords
High-content screen for modifiers of Niemann-Pick type C disease in patient cells
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DOI: 10.1093/hmg/ddy117
Abstract: Niemann-Pick type C (NPC) disease is a rare lysosomal storage disease caused primarily by mutations in NPC1. NPC1 encodes the lysosomal cholesterol transport protein NPC1. The most common NPC1 mutation is a missense mutation (NPC1I1061T)… read more here.
Keywords: cholesterol; disease; patient cells; high content ... See more keywords
False‐positive eluate reactivity due to LISS
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DOI: 10.1111/trf.16801
Abstract: A 63-year-old man with a remote history of transfusion and subsequent development of anti-Fy was admitted with septic shock. Anti-Fy was confirmed in the patient's plasma (2+ reactivity); the patient's cells were typed as Fy(b–).… read more here.
Keywords: last wash; patient cells; false positive; reactivity ... See more keywords
Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
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DOI: 10.3389/fnins.2020.00820
Abstract: Mutations in SPG7 and SPAST are common causes of hereditary spastic paraplegia (HSP). While some SPG7 mutations cause paraplegin deficiency, other SPG7 mutations cause increased paraplegin expression. Mitochondrial function has been studied in models that… read more here.
Keywords: spast patient; mitochondrial function; patient cells; paraplegin ... See more keywords