Two Cases of Autosomal Recessive Marinesco-Sjögren Syndrome Caused by SIL1 Gene Mutations

Authors: QI Zhan, GUO Ruolan, HU Xuyun, GUO Jun, HAO Chanjuan

Source: 罕见病研究, Vol 3, Iss 3, Pp 358-362 (2024)

Subject Terms: rare diseases, marinesco-sjögren syndrome, sil1 gene, exome sequencing, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2097-0501

Access URL: https://doaj.org/article/f1865b0d9b5647e88633b1f526923f0f

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

Authors: Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer, Emily O'Connor, Rita Horvath, Hans Hilmar Goebel, Denisa Hathazi, Hanns Lochmüller, Tatjana Straka, Rüdiger Rudolf, Joachim Weis, Andreas Roos

Source: Neurobiology of Disease, Vol 124, Iss , Pp 218-229 (2019)

Subject Terms: SIL1, Marinesco-Sjögren syndrome, Woozy, PNS pathology, Neuromuscular junction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996118307502; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/86c73da4fb03475eacefcedc8379d4c2

Diminished Ost3-dependent N-glycosylation of the BiP nucleotide exchange factor Sil1 is an adaptive response to reductive ER stress

Authors: Stevens, Kofi L. P., Black, Amy L., Wells, Kelsi M., Yeo, K. Y. Benjamin, Steuart, Robert F. L., Stirling, Colin J., Schulz, Benjamin L., Mousley, Carl J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Nov . 114(47), 12489-12494.

Access URL: https://www.jstor.org/stable/26485599

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

Authors: Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch, Ben Munro, Rita Horvath, Ana Töpf, Joachim Weis, Andreas Roos

Source: Frontiers in Neurology, Vol 10 (2019)

Subject Terms: SIL1-interactome, Marinesco-Sjögren syndrome biomarkers, SIL1 missense mutation, POC1A, FAM134B, centrosome, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00562/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/7f98a3f834db4bea907a64fca6f84390

SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology

Authors: Viraj P. Ichhaporia, Jieun Kim, Kanisha Kavdia, Peter Vogel, Linda Horner, Sharon Frase, Linda M. Hendershot

Source: Disease Models & Mechanisms, Vol 11, Iss 5 (2018)

Subject Terms: SIL1, Endoplasmic reticulum, Marinesco-Sjögren syndrome, Myopathy, Proteostasis collapse, PI3K-AKT-mTOR signaling, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/11/5/dmm033043; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/f28ca7942d714c9ca1771367cfca05f3

SIL1, a causative cochaperone gene of Marinesco‐Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

Authors: Yutaka Inaguma, Nanako Hamada, Hidenori Tabata, Ikuko Iwamoto, Makoto Mizuno, Yoshiaki V Nishimura, Hidenori Ito, Rika Morishita, Motomasa Suzuki, Kinji Ohno, Toshiyuki Kumagai, Koh‐ichi Nagata

Source: EMBO Molecular Medicine, Vol 6, Iss 3, Pp 414-429 (2014)

Subject Terms: axon growth, corticogenesis, Marinesco‐Sjögren syndrome, neuronal migration, SIL1, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/89dc98c8438741249d16fb5cf7b2968a

An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP

Authors: Kevin D Siegenthaler, Kristeen A Pareja, Jie Wang, Carolyn S Sevier

Source: eLife, Vol 6 (2017)

Subject Terms: BiP, Sil1, oxidative stress, redox signaling, endoplasmic reticulum, Kar2, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/24141; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/9ae202fe4ced41b28e2134dfcbc82f2b

Marinesco-Sjogren Syndrome and SIL1 Mutations

Authors: J Gordon Millichap, John J Millichap

Source: Pediatric Neurology Briefs, Vol 28, Iss 2, Pp 15-15 (2014)

Subject Terms: sil1, hypergonadotropic hypogonadism, scoliosis, Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.pediatricneurologybriefs.com/articles/199; https://doaj.org/toc/1043-3155; https://doaj.org/toc/2166-6482

Access URL: https://doaj.org/article/712870a899be4719b77c511c81c40ccd

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