Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy

A PECULIAR FORM OF PERIPHERAL NEUROPATHY

1952 • 1,049 citations

Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å

1978 • 784 citations

Fibril in senile systemic amyloidosis is derived from normal transthyretin.

1990 • 683 citations

Amyloid and amyloidosis

1988 • 625 citations

Partial denaturation of transthyretin is sufficient for amyloid fibril formation in vitro

1992 • 543 citations

Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

1984 • 427 citations

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

1978 • 426 citations

Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)

1983 • 367 citations

Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone.

1993 • 322 citations

Amyloid and Amyloidosis 1990

1991 • 255 citations

Polyneuritic Amyloidosis in a Japanese Family

1968 • 207 citations

Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity

1993 • 201 citations

Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.

1984 • 193 citations

Structure of the human prealbumin gene.

1985 • 178 citations

The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30–>Met variant to 1.7-A resolution.

1993 • 176 citations

Familial amyloidotic polyneuropathy

1989 • 124 citations

Cloning and sequence analysis of cDNA for human prealbumin

1984 • 120 citations

Localization of the human prealbumin gene to chromosome 18

1985 • 115 citations

Structure of Met30 variant of transthyretin and its amyloidogenic implications.

1993 • 107 citations

Type I familial amyloidotic polyneuropathy (Japanese type)

1984 • 97 citations

Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation.

1993 • 87 citations

Homozygosity for the transthyretin‐met³⁰‐gene in two Swedish sibs with familial amyloidotic polyneuropathy

1988 • 80 citations

Haplotype analysis of familial amyloidotic polyneuropathy

1989 • 79 citations

Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I.

1991 • 67 citations

Structural Comparisons between Mouse and Human Prealbumin1

1985 • 61 citations

Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family

1993 • 56 citations

Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant

1994 • 56 citations

Structure and Expression of the Mouse Prealbumin Gene1

1986 • 55 citations

Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA

1986 • 54 citations

Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

1990 • 54 citations

A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases

1990 • 54 citations

Familial amyloidotic polyneuropathy and other transthyretin related disorders

1990 • 52 citations

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

1992 • 46 citations

In situ localization of transthyretin-mRNA in the adult human liver, choroid plexus and pancreatic islets and in endocrine tumours of the pancreas and gut

1989 • 46 citations

Analyses of Prealbumin mRNAs in Individuals with Familial Amyloidotic Polyneuropathy1

1986 • 45 citations

FAMILIAL AMYLOID POLYNEUROPATHY ASSOCIATED WITH THE TRANSTHYRETIN CYS114 GENE IN A JAPANESE KINDRED

1992 • 45 citations

A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.

1992 • 40 citations

Transgenic mouse model of familial amyloidotic polyneuropathy.

1989 • 40 citations

New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis

1991 • 39 citations

Identification of a novel transthyretin variant (Val³⁰→Leu) associated with familial amyloidotic polyneuropathy

1992 • 36 citations

Prealbumin gene expression during mouse development studied by in situ hybridization

1987 • 34 citations

Homozygosity for the transthyretin‐Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy

1992 • 34 citations

Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30

1990 • 33 citations

Intermolecular Disulfide Linkages Are Not Required for Transthyretin Amyloid Fibril Formation in Vitro

1993 • 29 citations

Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met 30) gene

1994 • 26 citations

A Basic Transthyretin Variant (GLU61→LYS) Causes Familial Amyloidotic Polyneuropathy: Protein and DNA Sequencing and PCR-Induced Mutation Restriction Analysis

1993 • 25 citations

Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.

1986 • 25 citations

Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan

1986 • 23 citations

A novel mutant (transthyretin Ile‐50) related to amyloid polyneuropathy Single‐strand conformation polymorphism as a new genetic marker

1992 • 20 citations

Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka

1992 • 20 citations

Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: A Japanese kindred with novel mutant transthyretin (Ala97 to Gly)

1994 • 19 citations

A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy

1992 • 17 citations

Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis

1992 • 17 citations

Role of Serum Amyloid P Component for Systemic Amyloidosis in Transgenic Mice Carrying Human Mutant Transthyretin Gene

1991 • 16 citations

Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.

1987 • 14 citations

Effect of serum amyloid P component level on transthyretin-derived amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy.

1992 • 14 citations

Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly⁴² gene

1992 • 10 citations

Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family

1992 • 9 citations