Pathology

Steven A. Moore, PhD, MD

Portrait

Mailing Address

Office: 5239B RCP
Iowa City, IA 52242
Phone: +1 319 384 9084
Email: steven-moore@uiowa.edu

Office/Lab Address

Office/Lab: 4270A CBRB
Iowa City IA, 52242
Phone: +1 319 335 8215

Web: Muscular Dystrophy Diagnostic Service

Education

BS, Purdue University, 1977
PhD, Anatomy, Indiana University, 1980
MD, Indiana University School of Medicine, 1982
Residency, Pathology, University of Iowa College of Medicine, 1984
Fellowship, Neuropathology, University of Iowa College of Medicine, 1986

Appointments

Primary: Pathology

Center and Program Affiliations

  • Interdisciplinary Graduate Program in Neuroscience

Research Interests

developmental neurobiology, muscular dystrophy, neuropathology

Research Summary

Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. Dr. Moore is involved in the evaluation of patient biopsies and in research partially funded through a center grant from NIH. This Paul D. Wellstone Muscular Dystrophy Cooperative Research Center is exploring therapeutic strategies for the treatment of various muscular dystrophies by enabling translational research on muscular dystrophies and providing advanced diagnostic services. The MDCRC is composed of two research projects, three cores and investigators with a proven track record of excellence and collaboration. The Center researchers' studies and facilities will explore basic biological mechanisms that relate to possible treatments for muscular dystrophies, facilitate translational research on muscular dystrophies and provide advanced diagnostic services to patients and clinical trial participants. The Director and Co-director, Kevin Campbell and Steven Moore, are investigators with established records in basic, translational, and clinical research on muscular dystrophy.

Additional basic science collaboration with Dr. Kevin Campbell, Department of Molecular Physiology and Biophysics ( The Laboratory of Dr. Kevin P. Campbell) involves the pathologic characterization of genetic mouse models of muscular dystrophy. Many of these models use Cre-lox methodology to selectively knock out brain or peripheral nerve dystroglycan. These mice model congenital muscular dystrophy. A second basic science collaboration is with Lori Wallrath (Department of Biochemistry, The University of Iowa) studying lamin A/C.

Including the Wellstone MDCRC mentioned above, clinical diagnostic work in the general area of muscular dystophies has expanded into basic and clinical research projects in collaboration with several physicians at other institutions, Kevin Campbell, and Kathy Mathews (Department of Pediatrics, The University of Iowa). Current clinical studies involve: (1) a natural history study of patients with dystroglycanopathy, (2) a search for new genes in congenital myopathy and muscular dystrophy patients, (3) dysferlinopathy patients with amyloid deposition, (4) autophagic vacuolar myopathy patients, and (5) improvements in diagnostic testing.

Publications

  • Eskuri, JM, Stanley CM, Moore SA, Mathews KD. Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS.  J Peripheral Nervous System 17:132-134, 2012
  • Dialynas G, Flannery KM, Zirbel LN, Nagy PL, Mathews KD, Moore SA, and Walrath LL.  LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.  Hum Mol Genet 21:1544-1556, 2012.
  • Talman WT, Dragon DN, Jones SY, Moore SA, Lin LH.  Sudden death and myocardial lesions after damage to catecholamine neurons of the nucleus tractus solitarii in rat.  Cell Mol Neurobiol 2012 Apr 8 [Epub ahead of print]
  • Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, Valero de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, STrahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.  ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 44:575-580, 2012.
  • Acsadi A, Moore SA, Chéron A, Delalande O, Bennett L, Kupsky W, El-Baba M, Le Rumeur E, Hubert J-F.  A novel mutation in the spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.  J Biol Chem 287:18153-18162, 2012.
  • Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, and Campbell KP. Myoglobinuria and muscle pain are common in patients with limb girdle muscular dystrophy 2I. Neurology, 76:194-195, 2011.
  • Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, and Mora M.  Variable disease severity in Saudi Arabian and Sudanese families with c.3924+2T>C mutation of LAMA2.  MBC Research Notes, Dec 13;4(1):534, 2011.
  • Trantow CM, Hedberg-Buenz A, Iwashita S, Moore SA, and Anderson MG. Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes. PLoS Genet. 6:e1001008, 2010.
  • Guo LT, Moore SA, Engvall E, Shelton GD. Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.  Neuromuscular Disorders, 20:820-825, 2010.
  • Satz JS, Ostendorf AP, Hou S, Turner A, Kusano H, Lee JC, Turk R, Nguyen N, Ross-Barta SE, Westra S, Hoshi T, Moore SA, Campbell KP. Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain. J Neurosci 30:14560-14572, 2010.