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A NEW APOLIPOPROTEIN AL VARIANT, TRP50ARG, CAUSES HEREDITARY AMYLOIDOSIS

BOOTH, DR; TAN, SY; BOOTH, SE; HSUAN, JJ; TOTTY, NF; NGUYEN, O; HUTTON, T; ... PEPYS, MB; + view all (1995) A NEW APOLIPOPROTEIN AL VARIANT, TRP50ARG, CAUSES HEREDITARY AMYLOIDOSIS. QJM-INT J MED , 88 (10) 695 - 702.

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Abstract

A man with hereditary non-neuropathic systemic amyloidosis had amyloid fibril protein subunits consisting of N-terminal fragments (residues 1-86, 1-92 and 1-93) of a previously unknown variant of apolipoprotein Al, Trp50Arg, encoded by a thymine-cytosine transition. This is the third reported amyloidogenic apoAl variant. All involve substitutions of single neutral amino acids by the cationic residue arginine, suggesting a common mechanism of amyloidogenesis. However, the phenotypic expression of these mutations varies both within and between the seven known families with hereditary apoAl amyloidosis. These findings should facilitate analysis of the molecular basis of fibrillogenesis and of factors that modulate amyloid deposition and its consequences in vivo.

Type: Article
Title: A NEW APOLIPOPROTEIN AL VARIANT, TRP50ARG, CAUSES HEREDITARY AMYLOIDOSIS
Keywords: SYSTEMIC AMYLOIDOSIS, TYPE-4 ALLELE, P COMPONENT, C-III, PROTEIN, POLYNEUROPATHY, MUTATION, DEPOSITS, TISSUES, DISEASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inst for Liver and Digestive Hlth
URI: http://discovery.ucl.ac.uk/id/eprint/120496
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