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Description

This genetic component of SSMD was further supported in an additional study which used dry blood spots to identify the cause of death for two siblings suffering SSMD symptoms

Immunofluorescence confirmed that the ER-tag colocalizes with ER marker calnexin (Fig

E.Cuperlovic-CulfM

Neurology , 77 (14), 13511356

Notably, a recent study found that LAT1 was a pH-dependent but not pH-independent transporter, whose maximal transporter activity is at neutral pH but much lower at acidic pH (Cosco et al., SLC7A5 ) imports BCAAs and several essential amino acids (e.g., phenylalanine, leucine, isoleucine, tryptophan, histidine, and tyrosine) with high affinity in exchange for the efflux of intracellular histidine, tyrosine, and glutamine (Nicklin et al., 2009