Research Topics
Genomes and GenesSpecies | MARTHA M SKINNERSummaryAffiliation: Boston University Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8-year studyMartha Skinner
Boston University School of Medicine, Boston, Massachusetts 02118, USA
Ann Intern Med 140:85-93. 2004..AL amyloidosis is a fatal disease resulting from tissue deposition of amyloid fibrils derived from monoclonal immunoglobulin light chains. Treatment with oral chemotherapy is minimally effective...- High-dose intravenous melphalan with autologous stem cell transplantation in AL amyloidosis-associated end-stage renal diseaseLiam F Casserly
Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Kidney Int 63:1051-7. 2003..This treatment should be considered for patients with AL amyloidosis-associated ESRD... 
Short and long-term outcome of treatment with high-dose melphalan and stem cell transplantation for multiple myeloma-associated AL amyloidosisSaulius Girnius
Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA 02118, USA
Ann Hematol 89:579-84. 2010..Hematologic relapses occurred in 60% of patients at a median of 1 year after HDM/SCT. In conclusion, HDM/SCT can prolong overall survival in patients with MM/AL who are eligible to receive it...- The critical role of the constant region in thermal stability and aggregation of amyloidogenic immunoglobulin light chainElena S Klimtchuk
Gerry Amyloid Research Laboratory, Amyloid Treatment and Research Center, Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts 02118, United States
Biochemistry 49:9848-57. 2010..The kinetic barrier for this aggregation is regulated by the stability of the V(L) region. This represents a paradigm shift in AL fibrillogenesis and suggests C(L) region as a potential therapeutic target... - Diaphragm paralysis in primary systemic amyloidosisJohn L Berk
The Pulmonary Center, Boston University School of Medicine, MA 02118, USA
Amyloid 12:193-6. 2005..Nocturnal non-invasive ventilation lowered arterial carbon dioxide levels and improved daytime dyspnea. This is the first case associating AL amyloid-induced neuropathy with diaphragm dysfunction... 
Successful treatment of AL amyloidosis with high-dose melphalan and autologous stem cell transplantation in patients over age 65David C Seldin
Section of Hematology Oncology, Boston University Medical Center, 650 Albany St, Boston, MA 02118, USA
Blood 108:3945-7. 2006....- Association of acquired von Willebrand syndrome with AL amyloidosisCynthia A Kos
Department of Medicine, Boston University Medical Center, Boston, Massachusetts, USA
Am J Hematol 82:363-7. 2007..AVWS should be considered in AL amyloidosis patients with hemorrhagic diatheses and normal clotting factor levels... - Eprodisate for the treatment of renal disease in AA amyloidosisLaura M Dember
Boston University School of Medicine, Boston, MA 02118, USA
N Engl J Med 356:2349-60. 2007.... - Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survivalTatiana Prokaeva
Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
Arthritis Rheum 56:3858-68. 2007.... - Heterogeneity in primary structure, post-translational modifications, and germline gene usage of nine full-length amyloidogenic kappa1 immunoglobulin light chainsLawreen H Connors
Alan and Sandra Gerry Amyloid Research Laboratory in the Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Biochemistry 46:14259-71. 2007..This study demonstrated the extensive heterogeneity in primary structure, post-translational modifications, and germline gene usage that occurred in nine amyloidogenic kappa1 LC proteins... - Diagnostic and prognostic utility of cardiovascular magnetic resonance imaging in light-chain cardiac amyloidosisFrederick L Ruberg
Department of Medicine, Boston University School of Medicine, Massachusetts, USA
Am J Cardiol 103:544-9. 2009..LGE is strongly correlated with heart failure severity as assessed by BNP... - Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosisLawreen H Connors
Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA 02118, USA
Am Heart J 158:607-14. 2009..9%. This retrospective study describes TTR V122I-associated cardiac amyloid disease (ATTR) in a major amyloid referral clinic population... - Cellular response of cardiac fibroblasts to amyloidogenic light chainsVickery Trinkaus-Randall
Department of Biochemistry, Boston University School of Medicine, L904, 80 E Concord Street, Boston, MA 02118, USA
Am J Pathol 166:197-208. 2005..These studies indicate that internalization of the light chains mediates the expression and localization of heparan sulfate proteoglycans... - A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathyLawreen Heller Connors
Department of Biochemistry, Boston University School of Medicine, Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA, USA
Amyloid 11:61-6. 2004..This result was confirmed by restriction fragment length polymorphism (RFLP) testing. The presence of the variant protein, TTR Asp18Glu, in serum from the proband was confirmed by mass spectrometric analysis... - Incidence and outcome of acute renal failure complicating autologous stem cell transplantation for AL amyloidosisAmit Fadia
The Renal Section, Stem Cell Transplant Program of the Hematology/Oncology Section, and Amyloid Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
Kidney Int 63:1868-73. 2003..9 years. CONCLUSION: ARF is a frequent but often reversible complication of HDM/SCT for AL amyloidosis. Specific clinical and treatment-related factors are associated with the development of this complication... - Tolerability and efficacy of thalidomide for the treatment of patients with light chain-associated (AL) amyloidosisDavid C Seldin
Boston University Medical Center, Boston Medical Center, MA, USA
Clin Lymphoma 3:241-6. 2003..No complete hematologic responses were seen, but 25% of patients had a significant reduction in Bence-Jones proteinuria. Thus, while thalidomide has activity in AL amyloidosis, it also has significant toxicity in this patient population... - Improvement in quality of life of patients with AL amyloidosis treated with high-dose melphalan and autologous stem cell transplantationDavid C Seldin
Amyloid Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
Blood 104:1888-93. 2004..Thus, treatment of AL amyloidosis patients with HDM/SCT produces measurable and sustained improvements in quality of life, particularly in those patients who achieve hematologic CR... - Low-dose continuous oral melphalan for the treatment of primary systemic (AL) amyloidosisVaishali Sanchorawala
Department of Medicine, Section of Hematology Oncology, Boston Medical Center, Boston University School of Medicine, 88 East Newton Street, Boston, MA 02118, USA
Br J Haematol 117:886-9. 2002..This regimen appeared to be effective in inducing haematological responses in patients who received total doses of melphalan > 300 mg... - Spontaneous rupture of the liver in a patient with systemic AL amyloidosis undergoing treatment with high-dose melphalan and autologous stem cell transplantation: a case report with literature reviewMartin Tam
Graduate Medical Sciences Division, Boston University School of Medicine, Boston, Massachusetts, USA
Amyloid 16:103-7. 2009..A literature review of spontaneous liver rupture in patients with amyloidosis is presented... - Cardiac transplantation followed by dose-intensive melphalan and autologous stem-cell transplantation for light chain amyloidosis and heart failureBimalangshu R Dey
Massachusetts General Hospital, Boston, MA, USA
Transplantation 90:905-11. 2010..Autologous stem-cell transplantation (ASCT) has become a common therapy for AL amyloidosis, but there is an exceedingly high treatment-related mortality in patients with heart failure... - Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysisAmareth Lim
Department of Biochemistry, Boston University School of Medicine, Massachusetts 02118, USA
Anal Chem 74:741-51. 2002..The detection of two nonpathologic variants (Thr119Met and Gly6Ser) and four pathologic variants (Phe64Leu, Asp38Ala, Phe44Ser, and previously unreported Trp41Leu) are described as illustrations of this approach... - Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosisAmareth Lim
Mass Spectrometry Resource, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA
Protein Sci 12:1775-85. 2003..These adducts may play a role in the TTR fibrillogenesis... - A new transthyretin variant (Glu61Gly) associated with cardiomyopathyMichael Rosenzweig
Amyloid Treatment and Research Program, Boston University School of Medicine, MA 02118, USA
Amyloid 14:65-71. 2007..The observed mass results for the wild-type and variant proteins were consistent with the predicted values calculated from the genetic analysis data... - Long-term outcome of patients with AL amyloidosis treated with high-dose melphalan and stem-cell transplantationVaishali Sanchorawala
Stem Cell Transplantation Program of the Section of Hematology Oncology, Boston University School of Medicine, Boston, MA 02118, USA
Blood 110:3561-3. 2007..001). In conclusion, HDM/SCT leads to durable remissions and prolonged survival, particularly for those patients who achieve a hematologic CR... - Role of endocytic inhibitory drugs on internalization of amyloidogenic light chains by cardiac fibroblastsGrace Fortes Monis
Department of Pathology, Gerry Amyloid Research Laboratory, Boston University School of Medicine, 80 E. Concord St. L904, Boston, MA 02118, USA
Am J Pathol 169:1939-52. 2006..These results indicate that the cell internalizes light chain by a fluid phase endocytosis, which is then modified and ultimately compromises the cell... - Hepatic response after high-dose melphalan and stem cell transplantation in patients with AL amyloidosis associated liver diseaseSaulius Girnius
Department of Medicine, Boston University School of Medicine, Boston University School of Public Health, Boston, MA, USA
Haematologica 94:1029-32. 2009..In conclusion, hepatic disease improves in almost 2/3 patients treated with high-dose intravenous melphalan and autologous stem cell transplantation who have a complete or partial hematologic response to treatment... - Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosisBelinda Ng
Amyloidosis Treatment and Research Program, Sections of Cardiology, Boston University School of Medicine, Boston, MA, USA
Arch Intern Med 165:1425-9. 2005..The difference in survival, despite evidence of more myocardial disease in the senile group, suggests that heart failure in AL amyloidosis may have a toxic component, possibly related to the circulating monoclonal light chain... - Thermodynamic stability of a kappaI immunoglobulin light chain: relevance to multiple myelomaConnie M Chung
Department of Physiology and Biophysics, Boston University School of Medicine, Massachusetts, 02118, USA
Biophys J 88:4232-42. 2005..The stability of MM-kappaI was reduced and protein unfolding was irreversible at pH 4.8, thus suggesting that different pathways are utilized in thermal and chemical unfolding... - Light-chain amyloidosis with echocardiographic features of hypertrophic cardiomyopathyDanya L Dinwoodey
Section of Cardiology, Department of Medicine, Boston Medical Center, Boston, MA, USA
Am J Cardiol 101:674-6. 2008..In conclusion, awareness of this overlap in echocardiographic presentation may permit more accurate diagnosis, particularly at early stages of amyloid disease, when more treatment options exist... - Human amyloidogenic light chains directly impair cardiomyocyte function through an increase in cellular oxidant stressDaniel A Brenner
Whitaker Cardiovascular Institute and Amyloid Treatment and Research Program, Evans Department of Medicine, Boston University School of Medicine, Boston, Mass 02118, USA
Circ Res 94:1008-10. 2004..Antioxidant therapies or treatment strategies aimed at eliminating circulating LC proteins may therefore be beneficial in the treatment of this fatal disease... - Role of glycosaminoglycan sulfation in the formation of immunoglobulin light chain amyloid oligomers and fibrilsRuiyi Ren
Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, Massachusetts 02118, USA
J Biol Chem 285:37672-82. 2010..These findings highlight the importance of the variable and constant LC regions in GAG interaction and suggest potential therapeutic targets for treatment... - Cardiac amyloidosis: shifting our impressions to hopefulDouglas B Sawyer
Amyloid Treatment and Research Program, Boston University School of Medicine, 715 Albany Street, K5, Boston, MA 02118, USA
Curr Heart Fail Rep 3:64-71. 2006..The identification and appropriate referral of patients in whom this condition is suspected will help to improve the likelihood of successful therapy and long-term survival... - Is elevated plasma B-natriuretic peptide in amyloidosis simply a function of the presence of heart failure?Melanie Nordlinger
Amyloidosis Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
Am J Cardiol 96:982-4. 2005.... - Beta 2 microglobulin serum levels and prediction of survival in AL amyloidosisCristiano A F Zerbini
Thorndike Memorial Laboratory, Division of Medicine, Boston City Hospital, Arthritis Center, Boston University School of Medicine, Boston, Massachusetts, USA
Amyloid 9:242-6. 2002..1 months for beta 2M < or = 4 mg/ml vs 8.0 months for beta 2M > 4 mg/ml, p = 0.044). Thus a beta 2M level less than 4 mg/ml indicated a longer time of survival... - Quantitative serum free light chain assay in the diagnostic evaluation of AL amyloidosisHarun Akar
Amyloid Treatment and Research Program at Boston Medical Center, Boston University School of Medicine, Boston, MA, 02118, USA
Amyloid 12:210-5. 2005..After a histologic tissue diagnosis of amyloidosis, determining the type as AL amyloidosis relies on a panel of hematologic tests to determine light chain clonality and the exclusion other forms of amyloidosis... - Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissueFrancesca Lavatelli
Amyloid Treatment and Research Program, Boston, Massachusetts, USA
Mol Cell Proteomics 7:1570-83. 2008.... - Endothelial dysfunction precedes C-fiber abnormalities in primary (AL) amyloidosisMartin Berghoff
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
Ann Neurol 53:725-30. 2003..At this stage, C-fiber and smooth muscle function are still preserved. These data suggest that endothelial abnormalities precede and may contribute to the pathogenesis of the neuropathy associated with AL amyloidosis... - Bone marrow core biopsy specimens in AL (primary) amyloidosis. A morphologic and immunohistochemical study of 100 casesNiall Swan
Department of Pathology and Laboratory Medicine, Amyloid Treatment and Research Program, Boston University School of Medicine, 774 Albany St, Boston, MA 02118, USA
Am J Clin Pathol 120:610-6. 2003..04). Through the careful analysis of standard histochemical and immunohistochemical stains, bone marrow core biopsy provides essential diagnostic information in cases of AL amyloidosis...
Research Grants
- XIth International Symposium on AmyloidosisMartha Skinner; Fiscal Year: 2006..The Symposium is of great value because it is attended by both scientists and clinicians and it is the major meeting for inclusion of clinical research on amyloid diseases. ..