Hailey–Hailey disease: an update review with a focus on treatment data

I Ben Lagha, K Ashack, A Khachemoune - American journal of clinical …, 2020 - Springer
Hailey–Hailey disease is a rare blistering dermatosis first described in 1939 by the brothers
Howard and Hugh Hailey. Its incidence is estimated at 1/50,000. The inheritance is …

Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey–Hailey, and Grover …

RM Harmon, JL Ayers, EF McCarthy… - Journal of Investigative …, 2024 - Elsevier
Acantholytic skin disorders, by definition, compromise intercellular adhesion between
epidermal keratinocytes. The root cause of blistering in these diseases traces back to direct …

Manganese is a physiologically relevant TORC1 activator in yeast and mammals

R Nicastro, H Gaillard, L Zarzuela, MP Péli-Gulli… - Elife, 2022 - elifesciences.org
The essential biometal manganese (Mn) serves as a cofactor for several enzymes that are
crucial for the prevention of human diseases. Whether intracellular Mn levels may be sensed …

[HTML][HTML] Live cell transcription-coupled nucleotide excision repair dynamics revisited

DAL Schiffmacher, KW Kliza, AF Theil, GJ Kremers… - DNA repair, 2023 - Elsevier
Transcription–blocking lesions are specifically targeted by transcription-coupled nucleotide
excision repair (TC-NER), which prevents DNA damage-induced cellular toxicity and …

DNA damage stress: cui prodest?

N Verma, M Franchitto, A Zonfrilli, S Cialfi… - International journal of …, 2019 - mdpi.com
DNA is an entity shielded by mechanisms that maintain genomic stability and are essential
for living cells; however, DNA is constantly subject to assaults from the environment …

Manganese Stress Tolerance Depends on Yap1 and Stress-Activated MAP Kinases

IG de Oya, E Jiménez-Gutiérrez, H Gaillard… - International Journal of …, 2022 - mdpi.com
Understanding which intracellular signaling pathways are activated by manganese stress is
crucial to decipher how metal overload compromise cellular integrity. Here, we unveil a role …

Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism

D Muncanovic, MH Justesen, SS Preisler… - Scientific Reports, 2019 - nature.com
Hailey-Hailey disease is an autosomal genetic disease caused by mutations in one of the
two ATP2C 1 alleles encoding the secretory pathway Ca2+/Mn2+-ATPase, hSPCA1. The …

Treatment of recalcitrant hailey-hailey disease with naltrexone and dupilumab: a report of two cases

B Santoso, R Krevh, A Israeli, A Cusick, D Merritt… - Cureus, 2024 - pmc.ncbi.nlm.nih.gov
This report presents two cases of patients with long-standing, treatment-resistant Hailey-
Hailey disease (HHD) who experienced significant symptom relief through a combination …

Manganese is a physiologically relevant TORC1 activator in yeast and mammals

N Raffaele, G Hélène, Z Laura, PG Marie-Pierre… - eLife, 2022 - search.proquest.com
The essential biometal manganese (Mn) serves as a cofactor for several enzymes that are
crucial for the prevention of human diseases. Whether intracellular Mn levels may be sensed …

Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey‐Hailey disease

A Zonfrilli, F Truglio, A Simeone… - Experimental …, 2023 - Wiley Online Library
Hailey‐Hailey disease (HHD) is a rare autosomal dominantly inherited disorder caused by
mutations in the ATP2C1 gene that encodes an adenosine triphosphate (ATP)‐powered …