There is no cure for Marinesco-Sjögren syndrome (MSS), a genetic multisystem disease
linked to loss-of-function mutations in the SIL1 gene, encoding a BiP co-chaperone. We …

Marinesco-Sjögren syndrome (MSS) is a rare, early onset, autosomal recessive multisystem
disorder characterized by cerebellar ataxia, cataracts and myopathy. Most MSS cases are …

Individuals with Marinesco-Sjögren syndrome (MSS; OMIM 248800), a genetic disease of
infancy, suffer various disabilities, including loss of motor coordination due to cerebellar …

Loss-of-function mutations in the SIL1 gene are linked to Marinesco-Sjögren syndrome
(MSS), a rare multisystem disease of infancy characterized by cerebellar and skeletal …

Abstract Background and objective Marinesco-Sjögren syndrome (MSS) is an autosomal
recessive infantile-onset disorder characterized by cataracts, cerebellar ataxia, and …

SIL1 is a ubiquitous protein of the Endoplasmic Reticulum (ER) acting as a co-chaperone for
the ER-resident chaperone, BiP. Recessive mutations of the corresponding gene lead to …

Chaperone dysfunction leading to the build-up of misfolded proteins could frequently be
linked to clinical manifestations also affecting the nervous system and the skeletal muscle. In …

Marinesco–Sjogren syndrome (MSS) is a rare multisystem pediatric disorder, caused by loss-
of-function mutations in the gene encoding the endoplasmic reticulum cochaperone SIL1 …

Marinesco-Sjögren syndrome (MSS) is a rare, autosomal recessive, multisystem disorder,
which is characterized by cerebellar ataxia, early-onset bilateral cataracts, and progressive …

Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren
syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with …