3 Works

Neurofilament light chain (NfL) as a biomarker of hereditary transthyretin-mediated amyloidosis

Paul Nioi, Simina Ticau, Gautham V. Sridharan, Shira Tsour, William L. Cantley, Amy Chan, Jason A. Gilbert, David Erbe, Emre Aldinc, Mary M. Reilly, David Adams, Michael Polydefkis, Kevin Fitzgerald & Akshay Vaishnaw
To identify changes in the proteome associated with onset and progression of ATTRv amyloidosis, we performed an observational, case-controlled study which compared proteomes of patients with ATTRv amyloidosis and healthy controls. Plasma levels of >1,000 proteins were measured in patients with ATTRv amyloidosis with polyneuropathy who received either placebo or patisiran in the APOLLO study and in healthy controls. The impact of patisiran on the time profile of each protein was determined by linear mixed...

Data from: Increased Dystrophin Production With Golodirsen in Patients with Duchenne Muscular Dystrophy

Diane E. Frank, Frederick J. Schnell, Cody Akana, Saleh H. El-Husayni, Cody A. Desjardins, Jennifer Morgan, Jay S. Charleston, Valentina Sardone, Joana Domingos, George Dickson, Volker Straub, Michela Guglieri, Eugenio Mercuri, Laurent Servais & Francesco Muntoni
Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Methods Part 1 was a randomized, double-blind, placebo-controlled, 12-week dose titration of once-weekly golodirsen; Part 2 is an ongoing, open-label evaluation. Safety and pharmacokinetics were primary and secondary objectives of Part 1. Primary biological outcome measures of part 2 were blinded exon skipping and dystrophin protein production on muscle biopsies (baseline,...

Anatomy, ontogeny, and evolution of the archosaurian respiratory system: a case study on Alligator mississippiensis and Struthio camelus

Emma Schachner, Brandon Hedrick, Heather Richbourg, John Hutchinson & CG Farmer
The avian lung is highly specialized and is both functionally and morphologically distinct from that of their closest extant relatives, the crocodilians. It is highly partitioned, with a unidirectionally ventilated and immobilized gas-exchanging lung, and fully decoupled, compliant, poorly vascularized ventilatory air-sacs. To understand the evolutionary history of the archosaurian (birds, crocodilians and their common ancestors) respiratory system, it is essential to determine which anatomical characteristics are shared between birds and crocodilians and the role...

Registration Year

  • 2020
    3

Resource Types

  • Dataset
    3

Affiliations

  • University of London
    3
  • Agostino Gemelli University Polyclinic
    1
  • Alnylam Pharmaceuticals (United States)
    1
  • Hôpital Armand Trousseau
    1
  • Newcastle University
    1
  • Louisiana State University Health Sciences Center New Orleans
    1
  • University College London
    1
  • Johns Hopkins University School of Medicine
    1
  • University of Utah
    1
  • University of Paris-Saclay
    1