| EBS in Children with De Novo Pathogenic Variants Disturbing Krt14. | EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV, Ryumina II, Botkina AS, Evtushenko NA, Zhigmitova EB, Martynova AA, Gurskaya NG, Rebrikov DV., Free PMC Article | 03/20/2024 |
| A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. | A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC., Free PMC Article | 12/10/2022 |
| Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants. | Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
Vermeer MCSC, Silljé HHW, Pas HH, Andrei D, van der Meer P, Bolling MC. | 09/10/2022 |
| Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy. | Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG., Free PMC Article | 07/30/2022 |
| we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM | Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hedberg-Oldfors C, Abramsson A, Osborn DPS, Danielsson O, Fazlinezhad A, Nilipour Y, Hübbert L, Nennesmo I, Visuttijai K, Bharj J, Petropoulou E, Shoreim A, Vona B, Ahangari N, López MD, Doosti M, Banote RK, Maroofian R, Edling M, Taherpour M, Zetterberg H, Karimiani EG, Oldfors A, Jamshidi Y., Free PMC Article | 02/8/2020 |
| Study in a Dutch family propose that a KLHL24 mutation cause a syndromic rather than a skin-only type of epidermolysis bullosa, in which cardiomyopathy may be a dominant symptom. | Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC. | 11/16/2019 |
| Case Reports: Epidermolysis bullosa simplex -KLHL24 is characterized by congenital skin defects of the lower limbs, which heal rapidly, leaving hypopigmented-atrophic patches and peculiar stellate and linear raised scars. | Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.
El Hachem M, Barresi S, Diociaiuti A, Boldrini R, Condorelli AG, Capoluongo E, Proto V, Scuvera G, Has C, Tartaglia M, Castiglia D. | 06/1/2019 |
| KLHL24 mutation is associated in the pathogenesis of skin abnormalities and epidermolysis bullosa simplex. | The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.
Has C. | 09/16/2017 |
| KLHL24 Mutation is associated with epidermolysis bullosa. | Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X. | 09/9/2017 |
| findings identify KLHL24 mutations as a cause of skin fragility and identify a role for KLHL24 in maintaining the balance between intermediate filament stability and degradation required for skin integrity | Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C., Free PMC Article | 05/27/2017 |
| Data show that a miRNA, hsv1-mir-H27, encoded within the genome of herpes simplex virus 1 (HSV-1), targets the mRNA of the cellular transcriptional repressor Kelch-like 24 (KLHL24). | A microRNA encoded by HSV-1 inhibits a cellular transcriptional repressor of viral immediate early and early genes.
Wu W, Guo Z, Zhang X, Guo L, Liu L, Liao Y, Wang J, Wang L, Li Q. | 11/16/2013 |
| KRIP6 regulates kainate receptors by inhibiting PICK1 modulation via competition or a mutual blocking effect | The BTB/kelch protein, KRIP6, modulates the interaction of PICK1 with GluR6 kainate receptors.
Laezza F, Wilding TJ, Sequeira S, Craig AM, Huettner JE., Free PMC Article | 01/21/2010 |