Review: Protein misfolding diseases – the rare case of Marinesco‐Sjögren syndrome-Reference-Cited by-同舟云学术

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Review: Protein misfolding diseases – the rare case of Marinesco‐Sjögren syndrome

Published:2020-05-18 Issue:4 Volume:46 Page:323-343
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathol Appl Neurobiol

Author:

Chiesa R.¹^ORCID,Sallese M.²³^ORCID

Affiliation:

1. Department of Neuroscience Istituto di Ricerche Farmacologiche Mario Negri IRCCS MilanItaly

2. Department of Medical, Oral and Biotechnological Sciences University "G. d'Annunzio" Chieti Italy

3. CeSI‐MeT Center for Research on Ageing and Translational Medicine University "G. d'Annunzio" Chieti Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12588

Reference63 articles.

1. BAP, a Mammalian BiP-associated Protein, Is a Nucleotide Exchange Factor That Regulates the ATPase Activity of BiP

2. BiP and Its Nucleotide Exchange Factors Grp170 and Sil1: Mechanisms of Action and Biological Functions

3. LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum

4. The nucleotide exchange factors of Hsp70 molecular chaperones

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome;Journal of Translational Medicine;2024-08-23

2. Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice;2024-05-03

3. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder;Clinica Chimica Acta;2022-01

4. Proteomic Analysis of Marinesco–Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss;International Journal of Molecular Sciences;2021-11-18

5. The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy;Autophagy;2021-08-19

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