| The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy. | The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy.
Hua F, Bonzerato CG, Keller KR, Guo D, Luo J, Wojcikiewicz RJH. | 09/3/2024 |
| Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18. | Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
de Souza GC, Malta MC, Santos MRS, Fontes MÍB, de Sousa Anjos JL, Ribeiro DP, Kok F, Figueiredo T. | 06/5/2024 |
| KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1. | KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.
Xiao B, Xiang Q, Deng Z, Chen D, Wu S, Zhang Y, Liang Y, Wei S, Luo G, Li L., Free PMC Article | 02/1/2024 |
| Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection. | Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.
Teo QW, Wong HH, Heunis T, Stancheva V, Hachim A, Lv H, Siu L, Ho J, Lan Y, Mok CKP, Ulferts R, Sanyal S., Free PMC Article | 12/15/2023 |
| A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family. | A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.
Wang J, Zhao R, Cao H, Yin Z, Ma J, Xing Y, Zhang W, Chang X, Guo J., Free PMC Article | 11/16/2023 |
| Molecular and Immune Characteristics for Lung Adenocarcinoma Patients With ERLIN2 Overexpression. | Molecular and Immune Characteristics for Lung Adenocarcinoma Patients With ERLIN2 Overexpression.
Liu Y, Xie P, Jiang D, Liu J, Zhang J, Bian T, Shi J., Free PMC Article | 05/15/2021 |
| Expansion of the genetic landscape of ERLIN2-related disorders. | Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava S, D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM., Free PMC Article | 04/24/2021 |
| An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). | An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).
Park JM, Lee B, Kim JH, Park SY, Yu J, Kim UK, Park JS., Free PMC Article | 12/5/2020 |
| Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant are described. These findings expand the mutational and inheritance spectrum of SPG18. | A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C. | 03/9/2019 |
| Here we suggest that ERLIN1 variants, previously shown in juvenile hereditary spastic paraplegia cases, may also be the cause of a slowly progressive early-onset Amyotrophic lateral sclerosis (ALS) , starting with upper motor neuron features and developing into classical ALS with the addition of lower motor neuron dysfunction. | ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.
Tunca C, Akçimen F, Coşkun C, Gündoğdu-Eken A, Kocoglu C, Çevik B, Bekircan-Kurt CE, Tan E, Başak AN., Free PMC Article | 02/16/2019 |
| Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18 | Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18.
Tian WT, Shen JY, Liu XL, Wang T, Luan XH, Zhou HY, Chen SD, Huang XJ, Cao L., Free PMC Article | 03/4/2017 |
| Erlin-2 and the related erlin-1 were found to negatively regulate cholesterol and fatty acid biosynthesis in cultured cell models when the proteins were depleted by RNAi. The proteins also selectively bound cholesterol. | Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
Huber MD, Vesely PW, Datta K, Gerace L, Huber MD, Vesely PW, Datta K, Gerace L., Free PMC Articles: PMC3824017, PMC3824017 | 03/16/2015 |
| Here we show that the multimeric ER proteins erlins-1 and -2 are additional sterol regulatory element binding protein regulators. | Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
Huber MD, Vesely PW, Datta K, Gerace L, Huber MD, Vesely PW, Datta K, Gerace L., Free PMC Articles: PMC3824017, PMC3824017 | 01/11/2014 |
| ERLIN2 was found to be responsible for causing hereditary spastic paraplegia in a Saudi family. | A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.
Wakil SM, Bohlega S, Hagos S, Baz B, Al Dossari H, Ramzan K, Al-Hassnan ZN. | 06/15/2013 |
| ERLIN2 may confer a selective growth advantage for breast cancer cells by facilitating a cytoprotective response to various cellular stresses associated with oncogenesis. | ERLIN2 promotes breast cancer cell survival by modulating endoplasmic reticulum stress pathways.
Wang G, Liu G, Wang X, Sethi S, Ali-Fehmi R, Abrams J, Zheng Z, Zhang K, Ethier S, Yang ZQ., Free PMC Article | 01/26/2013 |
| ERLIN2 loss on cell growth may advance understanding of the mechanism behind motor neuron degeneration in primary lateral sclerosis | Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
Al-Saif A, Bohlega S, Al-Mohanna F. | 01/5/2013 |
| a novel brain gamma-secretase associated protein , erlin-2, that resides in detergent resistant membranes and affects amyloid beta-peptide production. | Erlin-2 is associated with active γ-secretase in brain and affects amyloid β-peptide production.
Teranishi Y, Hur JY, Gu GJ, Kihara T, Ishikawa T, Nishimura T, Winblad B, Behbahani H, Kamali-Moghaddam M, Frykman S, Tjernberg LO. | 11/24/2012 |
| a novel role for ERLIN2 in supporting cancer cell growth by promoting the activation of the key lipogenic regulator SREBP1c and the production of cytosolic lipid droplets. | Endoplasmic reticulum factor ERLIN2 regulates cytosolic lipid content in cancer cells.
Wang G, Zhang X, Lee JS, Wang X, Yang ZQ, Zhang K., Free PMC Article | 11/17/2012 |
| A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S. | 04/26/2012 |
| study describes an extended consanguineous Saudi family in which hereditary spastic paraplegia is linked to SPG18, an autosomal recessive locus, and show it is associated with a nullimorphic deletion of ERLIN2 | A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).
Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS., Free PMC Article | 03/31/2012 |
| The gene encodes endoplasmic reticulum (ER) lipid raft-associated protein 2 that mediates the ER-associated degradation of activated inositol 1,4,5-trisphosphate receptors and other substrates. | A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
Yıldırım Y, Orhan EK, Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoğlu S, Tolun A. | 08/13/2011 |
| m3 receptor-expressing HeLa cells are a valuable system for studying IP(3) receptor ERAD, and suggest that the SPFH1/2 complex is a factor that selectively mediates the ERAD of activated IP(3) receptors. | SPFH1 and SPFH2 mediate the ubiquitination and degradation of inositol 1,4,5-trisphosphate receptors in muscarinic receptor-expressing HeLa cells.
Wang Y, Pearce MM, Sliter DA, Olzmann JA, Christianson JC, Kopito RR, Boeckmann S, Gagen C, Leichner GS, Roitelman J, Wojcikiewicz RJ., Free PMC Article | 01/21/2010 |
| Results suggest that this novel SPFH1/2 complex is a recognition factor that targets IP(3)Rs and perhaps other substrates for ERAD. | An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors.
Pearce MM, Wormer DB, Wilkens S, Wojcikiewicz RJ., Free PMC Article | 01/21/2010 |
| SPFH2 as a key endoplasmic reticulum associated degradation pathway component and suggest that it may act as a substrate recognition factor. | SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and other substrates in mammalian cells.
Pearce MM, Wang Y, Kelley GG, Wojcikiewicz RJ. | 01/21/2010 |
| Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER. | Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER.
Browman DT, Resek ME, Zajchowski LD, Robbins SM. | 01/21/2010 |