Dr. Yamaguchi serves on the Scientific and Medical Advisory Board of the MHE Research Foundation

Research authored by Dr. Yamaguchi
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List of Publications via PubMed
(NIH National Library of Medicine)
Yu Yamaguchi, M.D., Ph.D., research
On September 30, 2007 during the FUNTASIA Research banquet  Dr. Yamaguchi was
presented with the
"The Humanitarian Scientific Achievement Award"
along with
CITATION from Borough of Brooklyn City of New York, Office of the President, Presented
by the President Marty Markowitz.

PROCLAMATION from New York State Senate, Presented by Senator Martin J. Golden.

CERTIFICATE OF RECOGNITION in honor of their Commitment to the MHE Research
Foundation from United States Congress U.S. House of Representatives, Presented by
Congressman Vito J. Fossella.
To read more about this event
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Home page
Wings of HOPE as we REACH
for the CURE to
Multiple Hereditary Exostoses Syndrome
Multiple Osteochondroma Syndrome
The MHE Research Foundations/Sanford-Burnham
hosted the inaugural Rare Disease Symposium held on Feb 26th, 2010
a unique format in which patients and their families were given a voice—and the scientists were
there to listen.
Symposium program / Video presentations from the conference
Sanford~Burnham New Letter article
Direct link to Yu Yamaguchi's Sanford-Burnham Institute for Medical Research webpage Click Here
To view the videos from this event Click Here
Roles of Heparan Sulfate in Mammalian Brain Development: Current Views Based on the Findings from Ext1
Conditional Knockout Studies
Yu Yamaguchi, Masaru Inatani, Yoshihiro Matsumoto, Junko Ogawa and Fumitoshi Irie

Development of the mammalian central nervous system proceeds roughly in four major steps, namely the patterning of the
neural tube, generation of neurons from neural stem cells and their migration to genetically predetermined destinations,
extension of axons and dendrites toward target neurons to form neural circuits, and formation of synaptic contacts. Earlier
studies on spatiotemporal expression patterns and in vitro function of heparan sulfate (HS) suggested that HS is functionally
involved in various aspects of neural development. Recent studies using knockout of genes involved in HS biosynthesis have
provided more physiologically relevant information as to the role of HS in mammalian neural development. This chapter reviews
the current understanding of the in vivo function of HS deduced from the phenotypes of conditional Ext1 knockout mice.

Link to abstract
Prog Mol Biol Transl Sci. 2010;93:133-52.

To view the two video presentations of this research  Video 1 Click Here   Video 2 Click Here
The 3rd Annual SBMRI Rare Disease Symposium held Feb 24, 2011.
Once again supported by our foundation, to view the video presentations and during this symposium

Click Here
Yu Yamaguchi's research on  "MHE" reveals new insights into autism, these findings also provide new
insights for the general autistic population
Click here to read the extensive press release
Yu Yamaguchi, Ph.D.
Link to Sanford-Burnham Medical Research Institute.Lab website page
My laboratory has been studying the role of EXT1/heparan sulfate in mouse embryonic development.  We have created a
conditional EXT1 knockout mouse model.  These conditional EXT1 knockout mice are being used for genetic studies to figure
out how the deficiency of EXT1/heparan sulfate causes MHE.  

These conditional knockout mice, which allow knocking out EXT1 at the site and time of researchers' desire, are very useful for
diverse studies on the function of EXT1/heparan sulfate.

Dr. Yamaguchi and his lab have been able to distribute these mice to more than 20 laboratories around the world (US, Europe,
and Japan) to help studies by other MHE investigators. Using this model system, Dr. Yamaguchi has demonstrated that
mutations of EXT1 influence not only bones but also the nervous system. Through an informal survey conducted by Sarah
Ziegler and Dr. Yamaguchi, although frequently ignored in the clinical front, MHE patients tend to have some mental,
neurological, and muscular symptoms. Such symptoms include: mild social interaction deficits (excessive shyness, adherence to
routines), heightened sensitivities to sensory stimulation (sounds, touch, taste), difficulties to concentrate, sleep issues and
muscle weakness(easy to get tired) and pain. Dr. Yamaguchi believes these neurological symptoms can be explained by the
deficiency of heparan sulfate in nerve cells. Indeed, recent analysis of knockout mouse behavior has revealed that these mice
have deficits in certain aspects of learning and the levels of fear/anxiety, as well as alterations in nerve cell wiring.

In addition, Dr. Yamaguchi has recently discovered that knockout of EXT1 in stem cells that destined to become bones and
cartilage causes severe bone abnormalities. These findings have provided us with a new insight into the reason why MHE
patients frequently associate a variety of symptoms in addition to exostosis /osteochondroma formation, our labs current
is developing therapeutic approaches for treating the disease

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