Results 41 to 50 of about 60,909 (346)

Hereditary transthyretin amyloidosis overview [PDF]

Neurological Sciences, 2020
AbstractHereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into ...
Manganelli, Fiore, Fabrizi, Gian Maria, Luigetti, Marco, Mandich, Paola, Mazzeo, Anna, Pareyson, Davide   +5 more
openaire   +5 more sources

Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report

Journal of Medical Case Reports, 2018
Background Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs.
Hiroyuki Yamamoto, Toru Hashimoto, Shunji Kawamura, Michiaki Hiroe, Taro Yamashita, Yukio Ando, Tomoki Yokochi   +6 more
doaj   +1 more source

Aggregated transthyretin is specifically packaged into placental nano-vesicles in preeclampsia

Scientific Reports, 2017
In preeclampsia, the serum levels of transthyretin, a carrier protein for thyroxine, are elevated. Transthyretin isolated from preeclamptic serum is also aggregated and can induce preeclampsia-like symptoms in pregnant IL10−/− mice.
Mancy Tong, Shi-bin Cheng, Qi Chen, Joana DeSousa, Peter R. Stone, Joanna L. James, Lawrence W. Chamley, Surendra Sharma   +7 more
doaj   +1 more source

Structure and sequence analyses of Bacteroides proteins BVU_4064 and BF1687 reveal presence of two novel predominantly-beta domains, predicted to be involved in lipid and cell surface interactions. [PDF]

, 2015
BackgroundN-terminal domains of BVU_4064 and BF1687 proteins from Bacteroides vulgatus and Bacteroides fragilis respectively are members of the Pfam family PF12985 (DUF3869).
Aravind, L, Godzik, Adam, Kumar, Abhinav, Natarajan, Padmaja, Punta, Marco, Yeh, Andrew P   +5 more
core   +2 more sources

Inhibition by small-molecule ligands of formation of amyloid fibrils of an immunoglobulin light chain variable domain. [PDF]

, 2015
Overproduction of immunoglobulin light chains leads to systemic amyloidosis, a lethal disease characterized by the formation of amyloid fibrils in patients' tissues. Excess light chains are in equilibrium between dimers and less stable monomers which can
Brumshtein, Boris, Cascio, Duilio, Eisenberg, David S, Esswein, Shannon R, Ly, Alan T, Phillips, Martin L, Salwinski, Lukasz, Sawaya, Michael R   +7 more
core   +1 more source

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

Journal of Neurology Neurosurgery & Psychiatry, 2022
Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes.
Antonia S Carroll, P. Dyck, M. de Carvalho, M. Kennerson, M. Reilly, M. Kiernan, S. Vucic   +6 more
semanticscholar   +1 more source

Transthyretin: a multifaceted protein

BioMolecular Concepts, 2014
AbstractTransthyretin is a highly conserved homotetrameric protein, mainly synthetized by the liver and the choroid plexus of brain. The carrier role of TTR is well-known; however, many other functions have emerged, namely in the nervous system. Behavior, cognition, neuropeptide amidation, neurogenesis, nerve regeneration, axonal growth and 14-3-3ζ ...
Maria João Saraiva, Marta Vieira
openaire   +4 more sources

A novel mechano‐enzymatic cleavage mechanism underlies transthyretin amyloidogenesis

EMBO Molecular Medicine, 2015
The mechanisms underlying transthyretin‐related amyloidosis in vivo remain unclear. The abundance of the 49–127 transthyretin fragment in ex vivo deposits suggests that a proteolytic cleavage has a crucial role in destabilizing the tetramer and releasing
Julien Marcoux, P Patrizia Mangione, Riccardo Porcari, Matteo T Degiacomi, Guglielmo Verona, Graham W Taylor, Sofia Giorgetti, Sara Raimondi, Sarah Sanglier‐Cianférani, Justin LP Benesch, Ciro Cecconi, Mohsin M Naqvi, Julian D Gillmore, Philip N Hawkins, Monica Stoppini, Carol V Robinson, Mark B Pepys, Vittorio Bellotti   +17 more
doaj   +1 more source

Specific Therapy for Transthyretin Cardiac Amyloidosis: A Systematic Literature Review and Evidence‐Based Recommendations

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background The emergence of specific therapies for transthyretin cardiac amyloidosis (CA) warrants the need for a systematic review of the literature.
Nuno Marques, Olga Azevedo, Ana Rita Almeida, Dina Bento, Inês Cruz, Emanuel Correia, Carolina Lourenço, Luís Rocha Lopes   +7 more
doaj   +1 more source

Proteomic analysis of the excretory-secretory products from larval stages of Ascaris suum reveals high abundance of glycosyl hydrolases [PDF]

, 2013
Background: Ascaris lumbricoides and Ascaris suum are socioeconomically important and widespread parasites of humans and pigs, respectively. The excretory-secretory (ES) molecules produced and presented at the parasite-host interface during the different
Deforce, Dieter, Dhaenens, Maarten, Gasser, Robin B, Geldhof, Peter, Jex, Aaron R, Van Steendam, Katleen, Vlaminck, Johnny, Wang, Tao   +7 more
core   +5 more sources