User profiles for Martin H. Fabry

Martin Heinrich Fabry

University of Cambridge
Verified email at cam.ac.uk
Cited by 548

piRNA-guided genome defense: from biogenesis to silencing

…, F Ciabrelli, EL Eastwood, MH Fabry… - Annual review of …, 2018 - annualreviews.org
PIWI-interacting RNAs (piRNAs) and their associated PIWI clade Argonaute proteins constitute
the core of the piRNA pathway. In gonadal cells, this conserved pathway is crucial for …

piRNA-guided co-transcriptional silencing coopts nuclear export factors

MH Fabry, F Ciabrelli, M Munafò, EL Eastwood… - Elife, 2019 - elifesciences.org
10.7554/eLife.47999.001 The PIWI-interacting RNA (piRNA) pathway is a small RNA-based
immune system that controls the expression of transposons and maintains genome integrity …

Maternally inherited piRNAs direct transient heterochromatin formation at active transposons during early Drosophila embryogenesis

MH Fabry, FA Falconio, F Joud, EK Lythgoe, B Czech… - Elife, 2021 - elifesciences.org
The PIWI-interacting RNA (piRNA) pathway controls transposon expression in animal germ
cells, thereby ensuring genome stability over generations. In Drosophila, piRNAs are …

[PDF][PDF] Systemic mRNA therapy for the treatment of Fabry disease: preclinical studies in wild-type mice, Fabry mouse model, and wild-type non-human primates

X Zhu, L Yin, M Theisen, J Zhuo, S Siddiqui… - The American Journal of …, 2019 - cell.com
… of Fabry disease.It is markedly elevated in both classic male and symptomatic female
Fabry-… Individuals with Fabry disease present clinically with a spectrum of disease severity that …

Fabry disease

R Schiffmann - Pharmacology & therapeutics, 2009 - Elsevier
… The dermatologists Johannes Fabry and William Anderson first described ‘angiokeratoma …
One might speculate that having the Fabry trait presents a selective advantage such as …

Fabry disease

R Schiffmann - Handbook of clinical neurology, 2015 - Elsevier
… Increased urinary sediment Gb 3 measured in 24 h collection was thought to be useful in
diagnosing Fabry disease, particularly in females who almost always have elevated levels (…

Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease

DP Germain, S Waldek, M Banikazemi… - Journal of the …, 2007 - journals.lww.com
Fabry disease, an inherited deficiency of the lysosomal … 58 patients who had classic Fabry
disease and completed a 20-… Fabry disease is an X-linked lysosomal storage disorder that is …

The changing landscape of Fabry disease

E Svarstad, HP Marti - Clinical journal of the american society of …, 2020 - journals.lww.com
Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA
gene causing complete or partial deficiency of the enzyme a-galactosidase A (a-Gal A), and …

Characterization of classical and nonclassical Fabry disease: a multicenter study

M Arends, C Wanner, D Hughes, A Mehta… - Journal of the …, 2017 - journals.lww.com
… men with nonclassical Fabry disease or … Fabry disease had a history of more events than
men with nonclassical disease or women with either phenotype; women with classical Fabry

The paradox of hemoglobin SC disease

RL Nagel, ME Fabry, MH Steinberg - Blood reviews, 2003 - Elsevier
Homozygous HbC gene results only in mild hemolytic anemia. In HbSC disease red cells
contain equal levels of HbS and HbC. It is a paradox that HbSC exhibit a moderately severe …