A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

Item
http://www.wikidata.org/entity/Q37514320
Amyloidogenic Potential of Transthyretin Variants: INSIGHTS FROM STRUCTURAL AND COMPUTATIONAL ANALYSESA new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.Optimal identification of semi-rigid domains in macromolecules from molecular dynamics simulation.The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.Transthyretin mutations in hyperthyroxinemia and amyloid diseases.Structure-based analysis of A19D, a variant of transthyretin involved in familial amyloid cardiomyopathy.A Mutation in NPAS3 That Segregates with Schizophrenia in a Small Family Leads to Protein Aggregation.Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement.Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.A mutation in NPAS3 segregates with mental illness in a small family.The "Wagshurst study": p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.Structural distribution of mutations associated with familial amyloidotic polyneuropathy in human transthyretin
P2860

A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

Item
http://www.wikidata.org/entity/Q37514320
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A new isoleucine substitution ...... d causes systemic amyloidosis.
@en
A new isoleucine substitution ...... d causes systemic amyloidosis.
@nl
type
label
A new isoleucine substitution ...... d causes systemic amyloidosis.
@en
A new isoleucine substitution ...... d causes systemic amyloidosis.
@nl
prefLabel
A new isoleucine substitution ...... d causes systemic amyloidosis.
@en
A new isoleucine substitution ...... d causes systemic amyloidosis.
@nl
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P1476
P2093
P2860
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P5875
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A new isoleucine substitution ...... d causes systemic amyloidosis.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932