DNA–protein crosslinks and their resolution

P Weickert, J Stingele - Annual Review of Biochemistry, 2022 - annualreviews.org
Covalent DNA–protein crosslinks (DPCs) are pervasive DNA lesions that interfere with
essential chromatin processes such as transcription or replication. This review strives to …

Hypoparathyroidism

M Mannstadt, JP Bilezikian, RV Thakker… - Nature Reviews …, 2017 - nature.com
Hypoparathyroidism is a disease characterized by inadequately low circulating
concentrations of parathyroid hormone (PTH) resulting in low calcium levels and increased …

Human FAM111A inhibits vaccinia virus replication by degrading viral protein I3 and is antagonized by poxvirus host range factor SPI-1

J Zhu, X Gao, Y Li, Z Zhang, S Xie… - Proceedings of the …, 2023 - National Acad Sciences
Zoonotic poxviruses such as mpox virus (MPXV) continue to threaten public health safety
since the eradication of smallpox. Vaccinia virus (VACV), the prototypic poxvirus used as the …

Genetic causes of hypomagnesemia, a clinical overview

DHHM Viering, JHF de Baaij, SB Walsh, R Kleta… - Pediatric …, 2017 - Springer
Magnesium is essential to the proper functioning of numerous cellular processes.
Magnesium ion (Mg 2+) deficits, as reflected in hypomagnesemia, can cause neuromuscular …

Epidemiology and health-related quality of life in hypoparathyroidism in Norway

MC Astor, K Løvås, A Debowska… - The Journal of …, 2016 - academic.oup.com
Objective: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to
determine prevalence, etiologies, health related quality of life (HRQOL) and treatment …

DNA–protein crosslink proteases in genome stability

A Ruggiano, K Ramadan - Communications Biology, 2021 - nature.com
Proteins covalently attached to DNA, also known as DNA–protein crosslinks (DPCs), are
common and bulky DNA lesions that interfere with DNA replication, repair, transcription and …

Cortical bone development, maintenance and porosity: genetic alterations in humans and mice influencing chondrocytes, osteoclasts, osteoblasts and osteocytes

T Isojima, NA Sims - Cellular and Molecular Life Sciences, 2021 - Springer
Cortical bone structure is a crucial determinant of bone strength, yet for many years studies
of novel genes and cell signalling pathways regulating bone strength have focused on the …

FAM111A protects replication forks from protein obstacles via its trypsin-like domain

Y Kojima, Y Machida, S Palani, TR Caulfield… - Nature …, 2020 - nature.com
Persistent protein obstacles on genomic DNA, such as DNA-protein crosslinks (DPCs) and
tight nucleoprotein complexes, can block replication forks. DPCs can be removed by the …

Edgotype: a fundamental link between genotype and phenotype

N Sahni, S Yi, Q Zhong, N Jailkhani… - Current opinion in …, 2013 - Elsevier
Classical 'one-gene/one-disease'models cannot fully reconcile with the increasingly
appreciated prevalence of complicated genotype-to-phenotype associations in human …

Functions and evolution of FAM111 serine proteases

AL Welter, YJ Machida - Frontiers in Molecular Biosciences, 2022 - frontiersin.org
Proteolysis plays fundamental and regulatory roles in diverse cellular processes. The serine
protease FAM111A (FAM111 trypsin-like peptidase A) emerged recently as a protease …