Results 51 to 60 of about 141,957 (168)

Transthyretin Amyloidosis Due to a Rare TTR Val142del Deletion With Relatively Early Clinical Manifestations

JACC: Case Reports
Background: Hereditary transthyretin amyloidosis shows marked phenotypic heterogeneity. In-frame deletions at codon 142 are exceedingly rare, and their cardiac expression remains poorly characterized.
Cristhian Espinoza Romero, MD, Kevin De Paula Morales, MD, Christiane Espirito Santo, MD, Guilherme dos Santos Ferreira, MD, Alan Silva Martins, MD, Bruno Vaz Kerges Bueno, MD, Fabio Fernandes, MD, PhD   +6 more
doaj   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis

, 2018
Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p.
Takeshi Yasuda (1398376), Shohei Ikeda (653766), Masahiro Iijima (5831621), Gen Sobue (133031), Ryoji Nishi (5831615), Yuichi Kawagashira (5831618), Masahisa Katsuno (133014), Haruki Koike (2932482)   +7 more
core   +1 more source

Old disease, new twist

Journal of Hospital Medicine, EarlyView.
Abstract An 81‐year‐old man with a history of high‐grade urothelial carcinoma of the bladder and ureter on treatment with atezolizumab and tiragolumab presented to the emergency department with 5 months of malaise, generalized weakness, and fatigue and 2 weeks of subjective fevers. One month prior to presentation, he received an empiric 9‐day course of
Hadi Roudsari, Gurpreet Dhaliwal, Anand D. Jagannath, Alan H. Baik, Sam Brondfield   +4 more
wiley   +1 more source

Amyloïdose héréditaire à transthyrétine [Transthyretin-related hereditary amyloidosis]

, 2016
Transthyretin-related hereditary amyloidosis (ATTR) is a progressive and potentially lethal genetic disorder, transmitted as an autosomal dominant trait. Tissue injury is induced by amyloid fibrils consisting of mutated transthyretin.
Moradpour, D., Yerly, P., Pascual, M., Kuntzer, T., Vionnet, J.   +4 more
core   +1 more source

A Case of Systemic Amyloidosis Diagnosed After Excision of a Cutaneous Tumour of the Buttocks

JEADV Clinical Practice, EarlyView.
ABSTRACT A 72‐year‐old Japanese man was referred to our hospital with two tumours on the buttocks. Two solitary, 2.5 × 1.5 cm‐sized, dark brown, well‐demarcated elevated plaques were observed, one on each side of the gluteal cleft, and dermoscopic examination showed comedo‐like openings, multiple milia‐like cysts, and a cerebriform pattern with ...
Tomomichi Shimizu, Hinako Chiba, Shinpei Hamasaki, Sho Arai, Tomomi Inomata, Ayako Hirota, Akio Kondo, Fumikazu Yamazaki, Yohei Masugi, Tomotaka Mabuchi   +9 more
wiley   +1 more source

Cryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis

, 2019
ATTR amyloidosis is one of the worldwide most abundant forms of systemic amyloidosis. The disease is caused by the misfolding of transthyretin protein and the formation of amyloid deposits at different sites within the body.
Wiese, Sebastian, Engler, Jonas, Zacharias, Martin, Schmidt, Matthias, Fändrich, Marcus, Agarwal, Shubhangi, Fritz, Günter, Westermark, Per, Adak, Volkan, Wiese, Sebastian,, Fändrich, Marcus,, Fritz, Günter,, Schmidt, Matthias,, Agarwal, Shubhangi,, Engler, Jonas,, Westermark, Per,, Adak, Volkan,, Zacharias, Martin,   +17 more
core   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Constrictions and shear stress are key determinants of amyloidogenic light chain (AL) amyloidosis

The FEBS Journal, EarlyView.
In this study, we investigate how flow constrictions and shear stress trigger cardiac antibody light chain (AL) fibril formation and deposition. We mimic the mechanical forces exerted by the heart and the microvasculature network using a mini‐peristaltic pump setup and a grid‐type microchannel network, respectively.
Yuji Goto, Keiichi Yamaguchi, Kichitaro Nakajima, Ikuko Yumen, Ruiming He, Hirokazu Matsuda, Tetsuichi Wazawa, Takeharu Nagai, Nobuhiro Tsukada, Suguru Yamamoto, Johannes Buchner, Hirotsugu Ogi   +11 more
wiley   +1 more source

Cardiac involvement in hereditary-transthyretin related amyloidosis

, 2012
Hereditary transthyretin-related amyloidosis remains a widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to strictly cardiac ...
Milandri A, Gagliardi C, Quarta CC., Rapezzi C, Lorenzini M, Gallelli I, Longhi S, Leone O   +7 more
core   +2 more sources