| Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature. | Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.
Stoian A, Bajko Z, Bălașa R, Andone S, Stoian M, Ormenișan I, Muntean C, Bănescu C., Free PMC Article | 04/1/2024 |
| MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism. | MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism.
Liu S, Han S, Wang C, Chen H, Xu Q, Feng S, Wang Y, Yao J, Zhou Q, Tang X, Lin L, Hu L, Davidson AJ, Yang B, Ye C, Yang F, Mao J, Tong C, Chen J, Jiang H., Free PMC Article | 01/9/2024 |
| Knockdown of circ_0002194 protects against oxidized low-density lipoprotein-induced cell damage via the regulation of the miR-637/PACS2 axis in human vascular endothelial cells. | Knockdown of circ_0002194 protects against oxidized low-density lipoprotein-induced cell damage via the regulation of the miR-637/PACS2 axis in human vascular endothelial cells.
Mei R, Wu M, Ren F., Free PMC Article | 10/1/2022 |
| Clinical variations of epileptic syndrome associated with PACS2 variant. | Clinical variations of epileptic syndrome associated with PACS2 variant.
Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N, Kato M. | 10/9/2021 |
| [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review]. | [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
Wu MJ, Hu CH, Ma JH, Hu JS, Liu ZS, Sun D. | 09/11/2021 |
| Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. | 07/24/2021 |
| These findings confirmed our previous research and expanded the mutational spectrum of WEE2, making it a potential genetic diagnostic marker for those suffering from human fertilization failure. | Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. | 05/23/2020 |
| the role of the multifunctional Mitochondria-associated endoplasmic reticulum membrane protein phosphofurin acidic cluster sorting protein 2 (PACS-2) in regulating Vascular Smooth Muscle Cell survival following a challenge by atherogenic lipids. | The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites.
Moulis M, Grousset E, Faccini J, Richetin K, Thomas G, Vindis C., Free PMC Article | 12/21/2019 |
| Insulin acutely regulates SIRT1 activity by triggering recruitment of PACS-2 and DBC1 to the SIRT1 N terminal region creating a regulatory hub. | An Insulin-Responsive Sensor in the SIRT1 Disordered Region Binds DBC1 and PACS-2 to Control Enzyme Activity.
Krzysiak TC, Thomas L, Choi YJ, Auclair S, Qian Y, Luan S, Krasnow SM, Thomas LL, Koharudin LMI, Benos PV, Marks DL, Gronenborn AM, Thomas G., Free PMC Article | 06/1/2019 |
| These findings support the causality of this recurrent de novo PACS2 heterozygous missense in Developmental and epileptic encephalopathies with facial dysmorphim and cerebellar dysgenesis. | A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C., Free PMC Article | 12/22/2018 |
| Protein adaptation and the expanding roles of the PACS1 and PACS2 proteins in tissue homeostasis and disease has been summarized. (Review) | Caught in the act - protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease.
Thomas G, Aslan JE, Thomas L, Shinde P, Shinde U, Simmen T., Free PMC Article | 03/17/2018 |
| Missense Mutation in PACS2 gene is associated with Neurodevelopmental Disorders. | Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C., Free PMC Article | 10/28/2017 |
| cIAPs constitutively downregulate PACS-2 by polyubiquitination and proteasomal degradation, thereby restraining TRAIL-induced killing of liver cancer cells | Cellular inhibitor of apoptosis (cIAP)-mediated ubiquitination of phosphofurin acidic cluster sorting protein 2 (PACS-2) negatively regulates tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) cytotoxicity.
Guicciardi ME, Werneburg NW, Bronk SF, Franke A, Yagita H, Thomas G, Gores GJ., Free PMC Article | 11/22/2014 |
| The sites on Nef and the PACS proteins required for their interaction, are identified. | An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I.
Dikeakos JD, Thomas L, Kwon G, Elferich J, Shinde U, Thomas G., Free PMC Article | 09/29/2012 |
| Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) protein-induced lysosomal translocation of proapoptotic effectors is mediated by phosphofurin acidic cluster sorting protein-2. | Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) protein-induced lysosomal translocation of proapoptotic effectors is mediated by phosphofurin acidic cluster sorting protein-2 (PACS-2).
Werneburg NW, Bronk SF, Guicciardi ME, Thomas L, Dikeakos JD, Thomas G, Gores GJ., Free PMC Article | 09/29/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesAssociation of genetic variants with hemorrhagic stroke in Japanese individuals.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. | 12/2/2009 |
| Results identify PACS-2 as an essential TRAIL effector, and show that Akt cooperates with 14-3-3 to regulate the homeostatic and apoptotic properties of PACS-2 that mediate TRAIL action. | Akt and 14-3-3 control a PACS-2 homeostatic switch that integrates membrane traffic with TRAIL-induced apoptosis.
Aslan JE, You H, Williamson DM, Endig J, Youker RT, Thomas L, Shu H, Du Y, Milewski RL, Brush MH, Possemato A, Sprott K, Fu H, Greis KD, Runckel DN, Vogel A, Thomas G., Free PMC Article | 01/21/2010 |
| the phosphorylation state of the calnexin cytosolic domain and its interaction with PACS-2 sort the chaperone between domains of the ER and the plasma membrane | The subcellular distribution of calnexin is mediated by PACS-2.
Myhill N, Lynes EM, Nanji JA, Blagoveshchenskaya AD, Fei H, Carmine Simmen K, Cooper TJ, Thomas G, Simmen T., Free PMC Article | 01/21/2010 |
| PACS-2 is required for Nef action and sorting of itinerant membrane cargo in the TGN/endosomal system | HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down-regulation: analysis using short interfering RNA and knock-out mice.
Atkins KM, Thomas L, Youker RT, Harriff MJ, Pissani F, You H, Thomas G., Free PMC Article | 01/21/2010 |
| PACS-2 as a novel sorting protein that links the endoplasmic reticulum (ER)-mitochondria axis to ER homeostasis | PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis.
Simmen T, Aslan JE, Blagoveshchenskaya AD, Thomas L, Wan L, Xiang Y, Feliciangeli SF, Hung CH, Crump CM, Thomas G., Free PMC Article | 01/21/2010 |
| subcellular localization and function of polycystin-2 are directed by phosphofurin acidic cluster sorting protein (PACS)-1 and PACS-2 | Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.
Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Höpker K, Simmen KC, Tschucke CC, Sandford R, Kim E, Thomas G, Walz G., Free PMC Article | 01/21/2010 |