Selected References

Below is a list of selected a-synuclein , TDP-43 , TTR , and Clinical references.

a-synuclein

Fleming J, Outeiro TF, Slack M, Lindquist SL, Bulawa CE.
Detection of compounds that rescue Rab1-synuclein toxicity.
Methods Enzymol. 2008;439:339-51.

Gitler AD, Bevis BJ, Shorter J, Strathearn KE, Hamamichi S, Su LJ, Caldwell KA, Caldwell GA, Rochet JC, McCaffery JM, Barlowe C, Lindquist S.
The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis .
Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):145-50. Epub 2007 Dec 27.

Cooper AA, Gitler AD, Cashikar A, Haynes CM, Hill KJ, Bhullar B, Liu K, Xu K, Strathearn KE, Liu F, Cao S, Caldwell KA, Caldwell GA, Marsischky G, Kolodner RD, Labaer J, Rochet JC, Bonini NM, Lindquist S.
Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models.
Science. 2006 Jul 21;313(5785):324-8. Epub 2006 Jun 22.

Outeiro TF, Lindquist S.
Yeast cells provide insight into alpha-synuclein biology and pathobiology.
Science. 2003 Dec 5;302(5651):1772-5.

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TDP-43

Johnson BS, McCaffery JM, Lindquist S, Gitler AD.
A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity.
Proc Natl Acad Sci U S A. 2008 Apr 29;105(17):6439-44. Epub 2008 Apr 23.

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TTR

Hammarström P, Schneider F, Kelly JW.
Trans-suppression of misfolding in an amyloid disease.
Science. 2001 Sep 28;293(5539):2459-62.

Johnson SM, Wiseman RL, Sekijima Y, Green NS, Adamski-Werner SL, Kelly JW.
Native state kinetic stabilization as a strategy to ameliorate protein misfolding diseases: a focus on the transthyretin amyloidoses. Acc Chem Res. 2005 Dec;38(12):911-21. Review.

Foss TR, Wiseman RL, Kelly JW.
The pathway by which the tetrameric protein transthyretin dissociates.
Biochemistry. 2005 Nov 29;44(47):15525-33.

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Clinical

Benson MD, Kincaid JC.
The molecular biology and clinical features of amyloid neuropathy.
Muscle Nerve. 2007 Oct;36(4):411-23.

Sawyer DB, Skinner M.
Cardiac amyloidosis: shifting our impressions to hopeful.
Curr Heart Fail Rep. 2006 Jun;3(2):64-71. Review.

Ando, Y., M. Nakamura, and S. Araki. 2005.
Transthyretin-related familial amyloidotic polyneuropathy.
Arch. Neurol. 62:1057-1062.

Falk RH.
Diagnosis and management of the cardiac amyloidosis.
Circulation. 2005; 112: 2047-60.

Herlenius G, Wilczek HE, Larsson M, et al.
Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the familial amyloidotic polyneuropathy world transplant registry.
Transplantation. 2004; 77(1): 64-71.

Hattori, T., Y. Takei, J. Koyama, M. Nakazato, and S. Ikeda. 2003.
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy.
Amyloid 10:229-239.

Sharma, P., R. E. Perri, J. E. Sirven, S. R. Zeldenrust, D. J. Brandhagen, C. B. Rosen, D. D. Douglas, D. C. Mulligan, J. Rakela, R. H. Wiesner, and V. Balan. 2003.
Outcome of liver transplantation for familial amyloidotic polyneuropathy.
Liver Transpl. 9:1273-1280.

Westermark, P., J. Bergstrom, A. Solomon, C. Murphy, and K. Sletten. 2003.
Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations.
Amyloid. 10 Suppl 1:48-54.

Hammarstrom, P., X. Jiang, A. R. Hurshman, E. T. Powers, and J. W. Kelly. 2002.
Sequence-dependent denaturation energetics: A major determinant in amyloid disease diversity.
Proc. Natl. Acad. Sci. U. S. A. 99 Suppl 4:16427-16432.

Adams, D. 2001.
Hereditary and acquired amyloid neuropathies.
J. Neurol. 248:647-657.

Benson, M. D. 2001. Amyloidosis, p. 5345-5378. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (ed.),
The Metabolic and Molecular Bases of Inherited Diseases, vol. 4. McGraw-Hill, New York.

Adams, D., D. Samuel, C. Goulon-Goeau, M. Nakazato, P. M. Costa, C. Feray, V. Plante, B. Ducot, P. Ichai, C. Lacroix, S. Metral, H. Bismuth, and G. Said. 2000.
The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation.
Brain 123 ( Pt 7):1495-1504.

Connors, L. H., A. M. Richardson, R. Theberge, and C. E. Costello. 2000.
Tabulation of transthyretin (TTR) variants as of 1/1/2000.
Amyloid. 7:54-69.

Tashima, K., Y. Ando, H. Terazaki, S. Yoshimatsu, O. B. Suhr, K. Obayashi, T. Yamashita, E. Ando, M. Uchino, and M. Ando. 1999.
Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients.
J. Neurol. Sci. 171:19-23.

Falk, R. H., R. L. Comenzo, and M. Skinner. 1997.
The systemic amyloidoses.
N. Engl. J. Med. 337:898-909.

Jacobson, D. R., M. Ittmann, J. N. Buxbaum, R. Wieczorek, and P. D. Gorevic. 1997.
Transthyretin Ile 122 and cardiac amyloidosis in African-Americans.
2 case reports. Tex. Heart Inst. J. 24:45-52.

Jacobson DR, Pastore RD, Yaghoubian R, et al.
Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black Americans.
N Engl J Med. 1997; 336(7): 466-473.

Jacobson, D. R., R. Pastore, S. Pool, S. Malendowicz, I. Kane, A. Shivji, S. H. Embury, S. K. Ballas, and J. N. Buxbaum. 1996.
Revised transthyretin Ile 122 allele frequency in African-Americans.
Hum. Genet. 98:236-238.

Kyle RA, Spittell PC, Gertz MA, et al.
The Premortem Recognition of Systemic Senile Amyloidosis with Cardiac Involvement.
Am J Med. 1996; 101(4): 395-400.

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