Alkaptonuria: An example of a “fundamental disease”—A rare disease with important lessons for more common disorders

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Alkaptonuria: An example of a “fundamental disease”—A rare disease with important lessons for more common disorders

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作者：James A. Gallagher^a ; ^{jag1@liv.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; ^{nick@sireau.net" class="auth_mail" title="E-mail the corresponding author} ; Jane P. Dillon^a ; ^{dillon@liv.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Nicolas Sireau^b ; ^{nick@findacure.org.uk" class="auth_mail" title="E-mail the corresponding author} ; Oliver Timmis^c ; ^{oliver@akusociety.org" class="auth_mail" title="E-mail the corresponding author} ; Lakshminarayan R. Ranganath^a ; ^d ; ^{lrang@liv.ac.uk" class="auth_mail" title="E-mail the corresponding author}
关键词：AGE ; advanced glycation end products ; AKU ; alkaptonuria ; ECM ; extracellular matrix ; HDMPs ; high density mineralised protrusions ; HGD ; homogentisate 1 ; 2 dioxygenase ; HGA ; homogentisic acid ; OMIM ; online Mendelian inheritance in man ; OA ; osteoarthritis ; PG ; proteoglycan ; TEM ; transmission electron microscopy ; ssNMR ; solid state nuclear magnetic resonance
刊名：Seminars in Cell & Developmental Biology
出版年：2016
出版时间：April 2016
年：2016
卷：52
期：Complete
页码：53-57
全文大小：1504 K

文摘

class="label">•: Fundamental diseases are rare diseases that help elucidate mechanisms of common disorders.
class="label">•: Alkaptonuria (AKU), an iconic Mendelian disease, is a prototypic fundamental disease.
class="label">•: Studying AKU has identified new disease mechanisms in osteoarthritis including the exposed collagen hypothesis.
class="label">•: HDMPs, identified in AKU and then OA, constitute a newly discovered mechanism of joint destruction.

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