| Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations. | Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations.
Omi M, Takeichi T, Ito Y, Yoshikawa T, Mizutani Y, Nagai M, Seishima M, Ogi T, Muro Y, Akiyama M. | 09/3/2024 |
| Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease. | Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease.
Zonfrilli A, Truglio F, Simeone A, Pelullo M, De Turris V, Benelli D, Checquolo S, Bellavia D, Palermo R, Uccelletti D, Screpanti I, Cialfi S, Talora C. | 06/9/2023 |
| Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells. | Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells.
Steimle BL, Bailey DK, Smith FM, Rosenblum SL, Kosman DJ., Free PMC Article | 09/17/2022 |
| Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease. | Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.
Miyazaki S, Nakano H, Mizuno M, Ozaki S, Hoashi T, Kanda N, Saeki H. | 08/27/2022 |
| Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain. | Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.
Rahman MS, Winsvold BS, Chavez Chavez SO, Børte S, Tsepilov YA, Sharapov SZ, HUNT All-In Pain, Aulchenko YS, Hagen K, Fors EA, Hveem K, Zwart JA, van Meurs JB, Freidin MB, Williams FM., Free PMC Article | 09/25/2021 |
| Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. | Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
Yang L, Zhang Q, Zhang S, Liu Y, Liu Y, Wang T., Free PMC Article | 08/7/2021 |
| Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases. | Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.
Boczek T, Sobolczyk M, Mackiewicz J, Lisek M, Ferenc B, Guo F, Zylinska L., Free PMC Article | 05/8/2021 |
| The SERCA residue Glu340 mediates interdomain communication that guides Ca(2+) transport. | The SERCA residue Glu340 mediates interdomain communication that guides Ca(2+) transport.
Geurts MMG, Clausen JD, Arnou B, Montigny C, Lenoir G, Corey RA, Jaxel C, Møller JV, Nissen P, Andersen JP, le Maire M, Bublitz M., Free PMC Article | 02/2/2021 |
| SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease. | SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
Roy AS, Miskinyte S, Garat A, Hovnanian A, Krzewinski-Recchi MA, Foulquier F. | 01/16/2021 |
| The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction. | The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction.
Madigan VJ, Berry GE, Tyson TO, Nardone-White D, Ark J, Elmore ZC, Murlidharan G, Vincent HA, Asokan A., Free PMC Article | 01/2/2021 |
| Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease. | Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
Sawicka J, Kutkowska-Kaźmierczak A, Woźniak K, Tysarowski A, Osipowicz K, Poznański J, Rygiel AM, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska K., Free PMC Article | 01/2/2021 |
| Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism. | Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.
Muncanovic D, Justesen MH, Preisler SS, Pedersen PA., Free PMC Article | 10/24/2020 |
| TMEM165 was constitutively degraded in lysosomes in the absence of SPCA1. | Investigating the functional link between TMEM165 and SPCA1.
Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F. | 07/11/2020 |
| Our findings update the spectrum of mutations in ATP2C1 in Hailey-Hailey disease. | Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population.
Wang Z, Li L, Sun L, Mi Z, Fu F, Yu G, Fu X, Liu H, Zhang F. | 04/18/2020 |
| A biochemical analysis indicated that Ca(2+) binding to the N-terminal EF-hand-like motif promotes the activity of SPCA1a by facilitating autophosphorylation. | An N-terminal Ca(2+)-binding motif regulates the secretory pathway Ca(2+)/Mn(2+)-transport ATPase SPCA1.
Chen J, Smaardijk S, Mattelaer CA, Pamula F, Vandecaetsbeek I, Vanoevelen J, Wuytack F, Lescrinier E, Eggermont J, Vangheluwe P., Free PMC Article | 12/14/2019 |
| y Western blot we observed the conversion of HMBS protein from a 47 kDA to 40 kDa product by E. coli K12, O18:K1 and by purified lipopolysaccharide. While ATP2C1 protein was released from platelets, E. coli either reduced the secretion or broke down the released protein making it undetectable by antibodies. | Impact of Escherichia coli K12 and O18:K1 on human platelets: Differential effects on platelet activation, RNAs and proteins.
Fejes AV, Best MG, van der Heijden WA, Vancura A, Verschueren H, de Mast Q, Wurdinger T, Mannhalter C., Free PMC Article | 10/26/2019 |
| SPCA1 activity is controlled by the sphingomyelin content of the trans-Golgi network membrane | Activity of the SPCA1 Calcium Pump Couples Sphingomyelin Synthesis to Sorting of Secretory Proteins in the Trans-Golgi Network.
Deng Y, Pakdel M, Blank B, Sundberg EL, Burd CG, von Blume J., Free PMC Article | 02/2/2019 |
| The calcium pump SPCA1 regulates proteases within the trans-Golgi network that require calcium for their activity and are critical for virus glycoprotein maturation. | Diverse Viruses Require the Calcium Transporter SPCA1 for Maturation and Spread.
Hoffmann HH, Schneider WM, Blomen VA, Scull MA, Hovnanian A, Brummelkamp TR, Rice CM., Free PMC Article | 08/18/2018 |
| the functional coupling between SPCA1 and Orai1 increases cytosolic and intraluminal Ca(2+) levels, representing a novel mechanism of store-independent Ca(2+) entry that may be affected in Hailey-Hailey disease. | Store-independent coupling between the Secretory Pathway Ca(2+) transport ATPase SPCA1 and Orai1 in Golgi stress and Hailey-Hailey disease.
Smaardijk S, Chen J, Kerselaers S, Voets T, Eggermont J, Vangheluwe P. | 07/14/2018 |
| We examined 2 familial and 2 sporadic cases of Hailey-Hailey Disease. Genomic DNA polymerase chain reaction and direct sequencing of the ATP2C1 were performed from HHD patients, unaffected family members, and 200 healthy individuals.We detected 3 heterozygous mutations, including 2 novel frameshift mutations (c.819insA (273LfsX) and c.1264insTAGATGG (421LfsX)) and 1 recurrent nonsense mutation (c.115C>T (R39X)). | Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.
Xu K, Shi B, Diao Q, Jiang X, Xiao Y., Free PMC Article | 07/7/2018 |
| results indicate that an ATP2C1/NOTCH1 axis might be critical for keratinocyte function and cutaneous homeostasis, suggesting a plausible model for the pathological features of Hailey-Hailey disease | The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease.
Cialfi S, Le Pera L, De Blasio C, Mariano G, Palermo R, Zonfrilli A, Uccelletti D, Palleschi C, Biolcati G, Barbieri L, Screpanti I, Talora C., Free PMC Article | 07/7/2018 |
| Studies indicate that Darier disease (DD) is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with Hailey-Hailey disease (HHD). | Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Nellen RG, Steijlen PM, van Steensel MA, Vreeburg M, European Professional Contributors, Frank J, van Geel M. | 01/13/2018 |
| This article aims to critically discuss the clinical and pathological features of Hailey-Hailey disease, differential diagnoses, and genetic and functional studies of the ATP2C1 gene in Hailey-Hailey disease. [review] | The role of the ATP2C1 gene in Hailey-Hailey disease.
Deng H, Xiao H., Free PMC Article | 12/16/2017 |
| review of the literature about the mutations occurring on the ATP2C1 gene and summarize how they are distributed along the gene and how missense mutations affect protein expression | ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Micaroni M, Giacchetti G, Plebani R, Xiao GG, Federici L., Free PMC Article | 11/11/2017 |
| The Secretory Pathway Ca(2+) -ATPases SPCA1 and SPCA2 are strongly induced under osteogenic conditions that elicit microcalcifications. SPCA gene expression is significantly elevated in breast cancer subtypes that are associated with microcalcifications. | Secretory pathway Ca(2+) -ATPases promote in vitro microcalcifications in breast cancer cells.
Dang D, Prasad H, Rao R., Free PMC Article | 10/21/2017 |