Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 3
2015 5
2016 3
2017 5
2018 6
2019 2
2020 3
2021 6
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

26 results

Results by year

Filters applied: . Clear all
Page 1
Review: Protein misfolding diseases - the rare case of Marinesco-Sjogren syndrome.
Chiesa R, Sallese M. Chiesa R, et al. Neuropathol Appl Neurobiol. 2020 Jun;46(4):323-343. doi: 10.1111/nan.12588. Neuropathol Appl Neurobiol. 2020. PMID: 31701543 Review.
Suppressor of Ire1/Lhs1 double mutant (SIL1) is a nucleotide exchange factor for immunoglobulin binding protein, the main ER chaperone and primary sensor of ER stress. Loss of SIL1 function causes Marinesco-Sjogren syndrome (MSS), a rare multisystem disease o …
Suppressor of Ire1/Lhs1 double mutant (SIL1) is a nucleotide exchange factor for immunoglobulin binding protein, the main ER chaperone and p …
Role of the HSP70 Co-Chaperone SIL1 in Health and Disease.
Ichhaporia VP, Hendershot LM. Ichhaporia VP, et al. Int J Mol Sci. 2021 Feb 4;22(4):1564. doi: 10.3390/ijms22041564. Int J Mol Sci. 2021. PMID: 33557244 Free PMC article. Review.
BiP, the ER HSP70 chaperone, interacts with unfolded client proteins in a nucleotide-dependent manner, which is tightly regulated by eight DnaJ-type proteins and two nucleotide exchange factors (NEFs), SIL1 and GRP170. Loss of SIL1's function is the leading cause of Marinesco …
BiP, the ER HSP70 chaperone, interacts with unfolded client proteins in a nucleotide-dependent manner, which is tightly regulated by eight D …
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA. Haugarvoll K, et al. PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. PLoS One. 2017. PMID: 28052128 Free PMC article.
CONCLUSIONS: We report GBA2 mutations causing a Marinesco-Sjogren-like syndrome in two Norwegian families. One of the families was originally diagnosed with Marinesco-Sjogren syndrome based on an autosomal recessive cerebellar ataxia with cataracts and mental …
CONCLUSIONS: We report GBA2 mutations causing a Marinesco-Sjogren-like syndrome in two Norwegian families. One of the families was originall …
Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.
Potenza F, Cufaro MC, Di Biase L, Panella V, Di Campli A, Ruggieri AG, Dufrusine B, Restelli E, Pietrangelo L, Protasi F, Pieragostino D, De Laurenzi V, Federici L, Chiesa R, Sallese M. Potenza F, et al. Int J Mol Sci. 2021 Nov 18;22(22):12449. doi: 10.3390/ijms222212449. Int J Mol Sci. 2021. PMID: 34830330 Free PMC article.
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-Sjogren syndrome (MSS) is a rare multisystem pediatric disorder, caused by loss-of-function mutations in the …
Targeting the enhanced ER stress response in Marinesco-Sjogren syndrome.
Kashimada A, Hasegawa S, Isagai T, Uchiyama T, Matsuo M, Kawai M, Goto M, Morio T, Hayashi YK, Takagi M. Kashimada A, et al. J Neurol Sci. 2018 Feb 15;385:49-56. doi: 10.1016/j.jns.2017.12.010. Epub 2017 Dec 9. J Neurol Sci. 2018. PMID: 29406913
BACKGROUND AND OBJECTIVE: Marinesco-Sjogren syndrome (MSS) is an autosomal recessive infantile-onset disorder characterized by cataracts, cerebellar ataxia, and progressive myopathy caused by mutation of SIL1. ...
BACKGROUND AND OBJECTIVE: Marinesco-Sjogren syndrome (MSS) is an autosomal recessive infantile-onset disorder character …
Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome.
Ezgu F, Krejci P, Li S, de Sousa C, Graham JM Jr, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox WR. Ezgu F, et al. Clin Genet. 2014 Jul;86(1):74-84. doi: 10.1111/cge.12230. Epub 2013 Jul 30. Clin Genet. 2014. PMID: 23829326
Marinesco-Sjogren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. ...
Marinesco-Sjogren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar …
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmüller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. Hathazi D, et al. Brain. 2021 Sep 4;144(8):2427-2442. doi: 10.1093/brain/awab133. Brain. 2021. PMID: 33792664 Free PMC article.
Marinesco-Sjogren syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts in infancy, myopathy and ataxia, symptoms which are also associated with a novel disorder caused by mutations in INPP5K. ...In this study, we …
Marinesco-Sjogren syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts in …
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A. Phan V, et al. Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20. Neurobiol Dis. 2019. PMID: 30468864
BACKGROUND: Marinesco-Sjogren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. ...
BACKGROUND: Marinesco-Sjogren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL …
Marinesco-Sjogren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS.
Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S. Filézac de L'Etang A, et al. Nat Neurosci. 2015 Feb;18(2):227-38. doi: 10.1038/nn.3903. Epub 2015 Jan 5. Nat Neurosci. 2015. PMID: 25559081
Here we show that the molecular environment of the ER between motor neuron subtypes is distinct, with characteristic signatures. We identify cochaperone SIL1, mutated in Marinesco-Sjogren syndrome (MSS), as being robustly expressed in disease-resistant slow m …
Here we show that the molecular environment of the ER between motor neuron subtypes is distinct, with characteristic signatures. We identify …
PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjogren syndrome.
Grande V, Ornaghi F, Comerio L, Restelli E, Masone A, Corbelli A, Tolomeo D, Capone V, Axten JM, Laping NJ, Fiordaliso F, Sallese M, Chiesa R. Grande V, et al. Hum Mol Genet. 2018 Jul 15;27(14):2477-2489. doi: 10.1093/hmg/ddy152. Hum Mol Genet. 2018. PMID: 29718201
Marinesco-Sjogren syndrome (MSS) is a rare, early onset, autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts and myopathy. ...
Marinesco-Sjogren syndrome (MSS) is a rare, early onset, autosomal recessive multisystem disorder characterized by cere …
26 results