Results 21 to 30 of about 265 (109)

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder

European Journal of Medical Genetics
Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized.
Van Reyk, O, Amor, DJ, Ruaud, L, Couque, N, Morgan, AT, Verloes, A, Morison, LD, Baker, E   +7 more
core   +4 more sources

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +3 more sources

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation [PDF]

The American Journal of Human Genetics, 2017
Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases.
Li, Lin, Stumpel, Constance T. R., Littlejohn, Rebecca Okashah, Scaglia, Fernando, Potjer, Thomas P., Santen, Gijs W. E., Stegmann, Alexander P. A., Camurri, Maria Vittoria, Ajeawung, Norbert F., Baskin, Berivan, Almannai, Mohammed, Lehman, Anna, Xia, Fan, Rousseau, Justine, Bi, Weimin, Roeder, Elizabeth R., Robak, Laurie, Ruivenkamp, Claudia, Rosenfeld, Jill A., Potocki, Lorraine, McKinnon, Margaret, Parker, Michael J., Yang, Xiang-Jiao, MacKenzie, Jennifer J., Canham, Natalie, Yan, Kezhi, Thi Tuyet Mai Nguyen, Gardham, Alice, Cho, Megan T., Sacoto, Maria J. Guillen, Fu, He, Panis, Bianca, Kiss, Courtney, Campeau, Philippe M.   +33 more
core   +3 more sources

BRPF1 in cancer epigenetics: a key regulator of histone acetylation and a promising therapeutic target

Cell Death Discovery
Bromodomain and PHD finger-containing protein 1 (BRPF1) is an essential component of histone acetyltransferase complexes, where it acts as a scaffold to facilitate their assembly and enzymatic activity, thereby playing a key role in chromatin remodeling ...
Elena Alexandrova, Roberto Parisi, Marharyta Smal, Domenico Di Rosa, Alfonso Carleo, Elena Orlando, Carmela Veneri, Viola Melone, Annamaria Salvati, Roberta Tarallo, Giovanni Nassa, Alessandro Weisz, Francesca Rizzo   +12 more
doaj   +4 more sources

Chromatin-focused genetic and chemical screens identify BRPF1 as a targetable vulnerability in Taxol-resistant triple-negative breast cancer [PDF]

Experimental and Molecular Medicine
Triple-negative breast cancer (TNBC) is a particularly aggressive and frequently recurring form of breast cancer, where chemotherapy is the primary treatment approach.
Ozlem Yedier-Bayram, Ahmet Cingöz, Ebru Yilmaz, Ali Cenk Aksu, Beril Esin, Nareg Degirmenci, Ayse Derya Cavga, Beyza Dedeoğlu, Buse Cevatemre, Hamzah Syed, Martin Philpott, Adam P. Cribbs, Udo Oppermann, Nathan A. Lack, Ceyda Acilan, Tamer T. Onder, Tugba Bagci-Onder   +16 more
doaj   +2 more sources

BRPF1 inhibition reduces migration and invasion of metastatic ovarian cancer cells, representing a potential therapeutic target

Scientific Reports
Ovarian Cancer (OC) is the most lethal gynecological malignancy, characterized by peritoneal metastasis, directly linked to most OC-related deaths. Here, by interrogating CRISPR-Cas9 loss-of-function genetic screen data, we identified a list of genes ...
Elena Alexandrova, Marharyta Smal, Domenico Di Rosa, Rosario Nicola Brancaccio, Roberto Parisi, Fabio Russo, Roberta Tarallo, Giovanni Nassa, Giorgio Giurato, Alessandro Weisz, Francesca Rizzo   +10 more
doaj   +2 more sources

BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease

Cancers, 2022
The bromodomain and PHD finger–containing protein1 (BRPF1) is a member of family IV of the bromodomain-containing proteins that participate in the post-translational modification of histones.
Baicheng Zhao, Gaoyu Zu, Liu, Ying, Linya You, Ying Liu, Jingli Cao, Hang Zhang, Zhang, Hang, Zhao, Baicheng, Cao, Jingli, You, Linya, Zu, Gaoyu   +11 more
core   +3 more sources

FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A

Human Genetics
FBRSL1 -associated syndrome is a rare congenital malformation and intellectual disability syndrome caused by heterozygous truncating variants in Fibrosin-Like 1 ( FBRSL1 ).
Kastens, Gina, Berger-Santangelo, Hanna, Gerstner, Sarah, Borchers, Annette, Mischak, Michaela, Ufartes, Roser, Pauli, Silke   +6 more
core   +4 more sources

The lysine acetyltransferase activator Brpf1 governs dentate gyrus development through neural stem cells and progenitors.

PLoS Genetics, 2015
Lysine acetylation has recently emerged as an important post-translational modification in diverse organisms, but relatively little is known about its roles in mammalian development and stem cells. Bromodomain- and PHD finger-containing protein 1 (BRPF1)
Linya You, Kezhi Yan, Jinfeng Zou, Hong Zhao, Nicholas R Bertos, Morag Park, Edwin Wang, Xiang-Jiao Yang   +7 more
doaj   +2 more sources

Enhanced cellular death in liver and breast cancer cells by dual BET/BRPF1 inhibitors [PDF]

Protein Science
The acetylpyrrole scaffold is an acetylated lysine mimic that has been previously explored to develop bromodomain inhibitors. When tested on the hepatoma cell line Huh7 and the breast cancer cell line MDA-MB-231, a few compounds in our acetylpyrrole ...
Sbardellati, Nicolo, Cazzanelli, Giulia, Caflisch, Amedeo; https://orcid.org/, Dalle Vedove, Andrea, Valer, Luca, Lolli, Graziano; https://orcid.org/   +5 more
core   +4 more sources