Expansion of the genetic landscape of ERLIN2 ‐related disorders-Reference-Cited by-同舟云学术

Expansion of the genetic landscape of ERLIN2 ‐related disorders

Published:2020-03-08 Issue:4 Volume:7 Page:573-578
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Srivastava Siddharth¹,D’Amore Angelica¹²,Cohen Julie S.³,Swanson Lindsay C.¹,Ricca Ivana²,Pini Antonella⁴,Fatemi Ali³,Ebrahimi‐Fakhari Darius¹^ORCID,Santorelli Filippo M.²^ORCID

Affiliation:

1. Department of Neurology Boston Children’s Hospital Harvard Medical School Boston Massachusetts

2. Molecular Medicine IRCCS Fondazione Stella Maris Pisa Italy

3. Department of Neurology and Developmental Medicine Kennedy Krieger Institute Baltimore Maryland

4. IRCCS Istituto delleScienzeNeurologiche di Bologna‐UOC Neuropsichiatria Infantile Bologna Italy

Funder

Spastic Paraplegia Foundation (SPF) Inc.

Thrasher Foundation

CureSPG47 Inc

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51007

Reference28 articles.

1. An Endoplasmic Reticulum (ER) Membrane Complex Composed of SPFH1 and SPFH2 Mediates the ER-associated Degradation of Inositol 1,4,5-Trisphosphate Receptors

2. Inositol 1,4,5‐trisphosphate receptors and their protein partners as signalling hubs

3. Neuronal calcium signaling: function and dysfunction

4. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

5. A novel heterozygous variant inERLIN2causes autosomal dominant pure hereditary spastic paraplegia

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2. ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway;Life Science Alliance;2024-05-23

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4. Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability;Neurological Sciences;2024-03-01

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