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View article: Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome Open
Snyder–Robinson syndrome (SRS) is a rare X-linked recessive disorder caused by a mutation in the SMS gene, which encodes spermine synthase, and aberrant polyamine metabolism. SRS is characterized by intellectual disability, thin habitus, s…
View article: CRISPRa-induced upregulation of human<i>LAMA1</i>compensates for<i>LAMA2</i>-deficiency in Merosin-deficient congenital muscular dystrophy
CRISPRa-induced upregulation of human<i>LAMA1</i>compensates for<i>LAMA2</i>-deficiency in Merosin-deficient congenital muscular dystrophy Open
Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder caused by mutations in the LAMA2 gene, resulting in a defective form of the extracellular matrix protein laminin-α2 (LAMA2). Individuals diagnosed w…
View article: Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome Open
Polyamines (putrescine, spermidine, and spermine) are essential molecules for normal cellular functions and are subject to strict metabolic regulation. Mutations in the gene encoding spermine synthase (SMS) lead to accumulation of spermidi…