DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration. | DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration. Deng IB, Follett J, Bu M, Farrer MJ. | 03/1/2024 |
DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT. | DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT. Shen M, Cao S, Long X, Xiao L, Yang L, Zhang P, Li L, Chen F, Lei T, Gao H, Ye F, Bu H., Free PMC Article | 02/28/2024 |
A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency. | A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency. Gunes D, Senturk L. | 08/10/2023 |
Restless legs syndrome in DNAJC12 deficiency. | Restless legs syndrome in DNAJC12 deficiency. Porta F, Neirotti A, Spada M. | 05/18/2023 |
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. | DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. Çıkı K, Yıldız Y, Yücel Yılmaz D, Pektaş E, Tokatlı A, Özgül RK, Sivri HS, Dursun A. | 03/19/2022 |
DNAJC12 promotes lung cancer growth by regulating the activation of betacatenin. | DNAJC12 promotes lung cancer growth by regulating the activation of β‑catenin. Li Y, Li M, Jin F, Liu J, Chen M, Yin J., Free PMC Article | 11/13/2021 |
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. | Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. | 11/6/2021 |
Our results support a role of DNAJC12 in the processing of misfolded ubiquitinated PAH by the ubiquitin-dependent proteasome/autophagy systems and add to the evidence that the DNAJ proteins are important players both for proper folding and degradation of their clients. | Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12. Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A. | 03/14/2020 |
High DNAJC12 expression is associated with gastric Cancer. | Increased Expression of DNAJC12 is Associated with Aggressive Phenotype of Gastric Cancer. Uno Y, Kanda M, Miwa T, Umeda S, Tanaka H, Tanaka C, Kobayashi D, Suenaga M, Hattori N, Hayashi M, Yamada S, Nakayama G, Fujiwara M, Kodera Y. | 06/1/2019 |
DNAJC12 mutation was identified in two siblings with developmental delay, movement disorder, and mild hyperphenylalaninemia. | DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. Veenma D, Cordeiro D, Sondheimer N, Mercimek-Andrews S., Free PMC Article | 03/30/2019 |
Molecular diagnostics for DNAJC12 variants are thus mandatory in all patients in which deficiencies of PAH and BH4 are genetically excluded. | DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Blau N, Martinez A, Hoffmann GF, Thöny B. | 12/22/2018 |
DNAJC12 mutation is not a risk factor of Parkinson's disease in Chinese Han population. | DNAJC12 mutation is rare in Chinese Han population with Parkinson's disease. Fan Y, Yang ZH, Li F, Hu XC, Yue YW, Yang J, Liu YT, Liu H, Wang YL, Shi CH, Xu YM. | 10/20/2018 |
The results of this study suggest that DNAJC12 mutations (absent in 500 early-onset patients with Parkinson's disease) rarely cause dopa-responsive nonprogressive parkinsonism in adulthood. | DNAJC12 and dopa-responsive nonprogressive parkinsonism. Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. | 11/4/2017 |
We report biallelic mutations of DNAJC12 in six affected individuals from four families with hyperphenylalaninemia and dopamine and serotonin deficiencies not caused by mutations in phenylalanine hydroxylase or any known tetrahydrobiopterin metabolism genes. | Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M., Free PMC Article | 05/6/2017 |
High expression of DNAJC12 correlates with poor prognosis for rectal cancer. | Overexpression of DNAJC12 predicts poor response to neoadjuvant concurrent chemoradiotherapy in patients with rectal cancer. He HL, Lee YE, Chen HP, Hsing CH, Chang IW, Shiue YL, Lee SW, Hsu CT, Lin LC, Wu TF, Li CF. | 08/1/2015 |
the endogenous DNAJC12 and Hsc70 proteins interact in LNCaP cells. | The co-chaperone DNAJC12 binds to Hsc70 and is upregulated by endoplasmic reticulum stress. Choi J, Djebbar S, Fournier A, Labrie C., Free PMC Article | 11/29/2014 |
Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesAssociation studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. Morgan AR, Turic D, Jehu L, Hamilton G, Hollingworth P, Moskvina V, Jones L, Lovestone S, Brayne C, Rubinsztein DC, Lawlor B, Gill M, O'Donovan MC, Owen MJ, Williams J. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. | 03/13/2008 |
JDP1 is a estrogen target gene and that its expression might be used as a marker of the estrogen transactivation activity | JDP1 (DNAJC12/Hsp40) expression in breast cancer and its association with estrogen receptor status. De Bessa SA, Salaorni S, Patrão DF, Neto MM, Brentani MM, Nagai MA. | 01/21/2010 |