SIL1 acts as a co-chaperone for the major ER-resident chaperone BiP and thus plays a role in many BiP-dependent cellular functions such as protein folding control and unfolded protein response. Whereas increase of BiP upon cellular stress conditions is a well-known phenomenon, elevation of SIL1 unde...
Marinesco-Sjögren syndrome (MSS) is a neurodegenerative disorder caused by autosomal recessive SIL1 mutations. SIL1 acts as a nucleotide exchange factor for the endoplasmic reticulum (ER) resident chaperone BiP. As BiP controls many ER-related processes, it is likely to contribute to MSS pathology. ...
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive neuromuscular disease. MSS patients suffer from ataxia, muscle weakness and cataracts; mental retardation and skeletal abnormalities are often present. In many cases the syndrome is caused by loss of function variant in the SIL1 gene, wh...
Patients with Marinesco-Sjögren syndrome and gene targeting in mice revealed an essential role for the SIL1/Sil1 gene in maintenance of central nervous tissue and skeletal muscle. SIL1/Sil1 expression is not restricted to a certain tissue, and the gene product, SIL1/Sil1, localizes to the (sarco)end...
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
