| The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration. | The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration.
Chen H, Lin C, Xue HM, Chen C, Yang M. | 03/10/2023 |
| DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening. | DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Saveri P, Magri S, Maderna E, Balistreri F, Lombardi R, Ciano C, Moda F, Garavaglia B, Reale C, Lauria Pinter G, Taroni F, Pareyson D, Pisciotta C., Free PMC Article | 06/18/2022 |
| DNAJB2 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels | Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
Wang Y, Anderson EP, Tatakis DN. | 11/18/2019 |
| Study describes the identi fi cation of the fi rst deletion reported at the DNAJB2 locus, further expanding its phenotypic and genotypic spectrums as well as its disease-associated mechanisms with spinal muscular atrophy and parkinsonism. | Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
Sanchez E, Darvish H, Mesias R, Taghavi S, Firouzabadi SG, Walker RH, Tafakhori A, Paisán-Ruiz C., Free PMC Article | 11/11/2017 |
| Our results disclose a novel interplay between ubiquitin- and phosphorylation-dependent signalling, and represent the first report of a regulatory mechanism for UIM-dependent function. They also suggest that CK2 inhibitors could release the full neuroprotective potential of HSJ1, and deserve future interest as therapeutic strategies for neurodegenerative disease. | Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.
Ottaviani D, Marin O, Arrigoni G, Franchin C, Vilardell J, Sandre M, Li W, Parfitt DA, Pinna LA, Cheetham ME, Ruzzene M., Free PMC Article | 09/16/2017 |
| The results of this study confirm that HSJ1 mutations are a rare but detectable cause of autosomal recessive dHMN and CMT2. | HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. | 01/3/2015 |
| HSJ1a acts on mutant SOD1 through a combination of chaperone, co-chaperone and pro-ubiquitylation activity. | Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
Novoselov SS, Mustill WJ, Gray AL, Dick JR, Kanuga N, Kalmar B, Greensmith L, Cheetham ME., Free PMC Article | 04/19/2014 |
| a mutation causing a loss-of-function of HSJ1 is linked to a pure lower motor neuron disease, strongly suggesting that HSJ1 also plays an important and specific role in motor neurons. | A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L. | 06/9/2012 |
| Data show that DNAJB2 is expressed in skeletal muscle at the neuromuscular junction of normal fibers, in the cytoplasm and membrane of regenerating fibers, and in protein aggregates and vacuoles in protein aggregate myopathies. | DNAJB2 expression in normal and diseased human and mouse skeletal muscle.
Claeys KG, Sozanska M, Martin JJ, Lacene E, Vignaud L, Stockholm D, Laforêt P, Eymard B, Kichler A, Scherman D, Voit T, Israeli D., Free PMC Article | 10/23/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesOxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
Starr JM, Shiels PG, Harris SE, Pattie A, Pearce MS, Relton CL, Deary IJ. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ, Deary IJ. | 11/19/2008 |
| Damaging exercise induced the expression of capZalpha, MCIP1, CARP1, DNAJB2, c-myc, and junD, each of which are likely involved in skeletal muscle growth, remodeling, and stress management. | Gene expression profiling in human skeletal muscle during recovery from eccentric exercise.
Mahoney DJ, Safdar A, Parise G, Melov S, Fu M, MacNeil L, Kaczor J, Payne ET, Tarnopolsky MA., Free PMC Article | 01/21/2010 |
| Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase | Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.
Borrell-Pagès M, Canals JM, Cordelières FP, Parker JA, Pineda JR, Grange G, Bryson EA, Guillermier M, Hirsch E, Hantraye P, Cheetham ME, Néri C, Alberch J, Brouillet E, Saudou F, Humbert S., Free PMC Article | 01/21/2010 |
| HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome. | HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome.
Westhoff B, Chapple JP, van der Spuy J, Höhfeld J, Cheetham ME. | 01/21/2010 |
| data provide evidence that cytoplasmic chaperones HSJ1a and HSJ1b when targeted to the endoplasmic reticulum can influence the folding and processing of rhodopsin | The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation.
Chapple JP, Cheetham ME. | 01/21/2010 |