In humans, mutations in BIN1 have been associated with skeletal myopathies including centronuclear myopathy causing muscle weakness and myotonic dystrophy causing progressive muscle wasting, myotonia, cataracts, and heart conduction defects. An association has also been found between BIN1 mutations and Alzheimer's disease. Knockdown of BIN1 produces a cardiomyopathy phenotype in zebrafish, and in sheep BIN1 may be responsible for the loss of … WebMar 11, 2024 · The research team created a mouse model in which the BIN1 gene was selectively inactivated, or knocked out, to characterize the protein's normal function in the brain. In particular, they used ...
BIN1 gene: MedlinePlus Genetics
WebThe bridging integrator 1 (BIN1) gene, also known as amphiphysin 2, has recently been identified as the most important risk locus for late onset Alzheimer's disease (LOAD), … WebNov 23, 2016 · In recent decades, a cardiomyocyte membrane scaffolding protein bridging integrator 1 (BIN1) has emerged as a critical multifunctional regulator of transverse-tubule (t-tubule) function and calcium signaling in cardiomyocytes. can diabetes eat mashed potatoes
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WebMYC is a proto-oncogene regulating a large number of genes involved in a plethora of cellular functions. Its deregulation results in activation of MYC gene expression and/or an increase in MYC protein stability. MYC overexpression is a hallmark of malignant growth, inducing self-renewal of stem cells and blocking senescence and cell differentiation. This … WebJul 13, 2024 · Genome-wide association studies identified the BIN1 locus as a leading modulator of genetic risk in Alzheimer's disease (AD). One limitation in understanding BIN1 's contribution to AD is its unknown function in the brain. AD-associated BIN1 variants are generally noncoding and likely change expression. WebMar 29, 2024 · Bin1 appears to function as a metastasis suppressor and chemosensitizer in neuroblastoma. Amphiphysin 2/BIN1 participates in the tubulation … can diabetes eat peanut butter