Transthyretin mutations in health and disease

Amyloid and amyloidosis

1988 • 625 citations

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

1984 • 427 citations

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

1993 • 322 citations

Structure of human plasma prealbumin at 2.5 A resolution

1974 • 272 citations

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.

1986 • 160 citations

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement

1992 • 155 citations

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1989 • 148 citations

Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

1986 • 133 citations

Structure of the chromosomal gene for human serum prealbumin

1985 • 117 citations

Structure of Met30 variant of transthyretin and its amyloidogenic implications.

1993 • 107 citations

Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of jewish origin

1984 • 100 citations

Production of recombinant human transthyretin with biological activities toward the understanding of the molecular basis of familial amyloidotic polyneuropathy (FAP)

1991 • 81 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

A New Prealbumin Variant in Familial Amyloid Cardiomyopathy of Danish Origin

1988 • 77 citations

A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.

1990 • 74 citations

Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.

1988 • 72 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

Amyloid and Amyloidosis

2004 • 64 citations

Amyloid and amyloidosis.

1992 • 61 citations

Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant

1994 • 56 citations

The Molecular and Genetic Basis of Neurological Disease

1994 • 55 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

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

Two‐tiered DNA‐based diagnosis of transthyretin amyloidosis reveals two novel point mutations

1991 • 53 citations

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

1992 • 46 citations

Cardiac Amyloidosis: Report of a Patient Heterozygous for the Transthyretin Isoleucine 122 Variant

1990 • 45 citations

Paraffin oil protected high resolution hybrid isoelectric focusing for the demonstration of substitutions of neutral amino acids in denatured proteins: The case of four human transthyretin (prealbumin) variants associated with familial amyloidotic polyneuropathy

1987 • 44 citations

Transthyretin Ser 6 gene frequency in individuals without amyloidosis

1995 • 42 citations

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two sicilian kindreds with hereditary amyloidosis

1992 • 41 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

Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.

1991 • 39 citations

Transthyretin Leu 68 in a form of cardiac amyloidosis

1991 • 38 citations

A new transthyretin mutation associated with amyloid cardiomyopathy.

1992 • 37 citations

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

1992 • 36 citations

Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants.

1993 • 33 citations

Molecular analyses of an acidic transthyretin Asn 90 variant.

1991 • 33 citations

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent

1992 • 32 citations

Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70

1992 • 32 citations

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

1993 • 25 citations

A New Transthyretin Mutation Associated with Amyloidotic Vitreous Opacities

1992 • 24 citations

A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient “SKO” with familial amyloidotic polyneuropathy

1994 • 21 citations

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

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 specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks.

1992 • 18 citations

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

1992 • 17 citations

Characterization of a basic transthyretin variant - TTR Arg 102 - in the German population

1991 • 17 citations

Transthyretin ALA 71: A new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy

1993 • 16 citations

Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis

1994 • 14 citations