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Featured researches published by Leland E. Lim.


Cell | 1994

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Steven L. Roberds; Valérie Allamand; F. Piccolo; Marc Jeanpierre; Richard D. Anderson; Leland E. Lim; Jane C. Lee; Fernando M.S. Tomé; Norma B. Romero; Michel Fardeau; Jacques S. Beckmann; Jean-Claude Kaplan; Kevin P. Campbell

Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In several North African families, SCARMD has been linked to chromosome 13q, but SCARMD has been excluded from linkage to this locus in other families. We have now cloned human adhalin cDNA and mapped the adhalin gene to chromosome 17q12-q21.33, excluding it from involvement in 13q-linked SCARMD. However, one allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene cosegregated perfectly with the disease phenotype in a large family. Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy.


Nature Genetics | 1995

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

Leland E. Lim; Franck Duclos; Odile Broux; Nathalie Bourg; Yoshihide Sunada; Valérie Allamand; Jon Meyer; Isabelle Richard; Carolyn R. Moomaw; Clive Slaughter; F. M. S. Tome; Michel Fardeau; Charles E. Jackson; Jacques S. Beckmann; Kevin P. Campbell

β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan cDNA and mapped the β–sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb–girdle muscular dystrophy in several Amish families. A Thr–to–Arg missense mutation was identified within the β–sarcoglycan gene that leads to a dramatically reduced expression of β–sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin–glycoprotein complex. Thus, the β–sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb–girdle muscular dystrophy.


Nature Genetics | 1995

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.

Leland E. Lim; Franck Duclos; Odile Broux; Nathalie Bourg; Yoshihide Sunada; Allamand; Jon Meyer; Isabelle Richard; Carolyn R. Moomaw; Clive A. Slaughter

β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan cDNA and mapped the β–sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb–girdle muscular dystrophy in several Amish families. A Thr–to–Arg missense mutation was identified within the β–sarcoglycan gene that leads to a dramatically reduced expression of β–sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin–glycoprotein complex. Thus, the β–sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb–girdle muscular dystrophy.


Current Opinion in Neurology | 1998

The sarcoglycan complex in limb–girdle muscular dystrophy

Leland E. Lim; Kevin P. Campbell

The involvement of the sarcoglycan complex in the pathogenesis of muscular dystrophy is becoming increasingly clear. Sarcoglycan gene mutations lead to four forms of autosomal recessive limb-girdle muscular dystrophy. Recent progress has been made with the identification of novel mutations and their correlations with disease. Through this research, a better understanding the molecular pathogenesis of limb-girdle muscular dystrophy has been gained. Finally, animal models are now being used to study viral-mediated gene transfer for the future treatment of this disease.


Molecular Cell | 1998

Functional Rescue of the Sarcoglycan Complex in the BIO 14.6 Hamster Using δ-Sarcoglycan Gene Transfer

Kathleen H. Holt; Leland E. Lim; Volker Straub; David Venzke; Franck Duclos; Richard D. Anderson; Beverly L. Davidson; Kevin P. Campbell

Four types of limb-girdle muscular dystrophy (LGMD) are known to be caused by mutations in distinct sarcoglycan genes. The BIO 14.6 hamster is a model for sarcoglycan-deficient LGMD with a deletion in the delta-sarcoglycan (delta-SG) gene. We investigated the function of the sarcoglycan complex and the feasibility of sarcoglycan gene transfer for LGMD using a recombinant delta-SG adenovirus in the BIO 14.6 hamster. We demonstrate extensive long-term expression of delta-sarcoglycan and rescue of the entire sarcoglycan complex, as well as restored stable association of alpha-dystroglycan with the sarcolemma. Importantly, muscle fibers expressing delta-sarcoglycan lack morphological markers of muscular dystrophy and exhibit restored plasma membrane integrity. In summary, the sarcoglycan complex is requisite for the maintenance of sarcolemmal integrity, and primary mutations in individual sarcoglycan components can be corrected in vivo.


Neuromuscular Disorders | 1998

β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

Franck Duclos; Odile Broux; Nathalie Bourg; Volker Straub; G.L Feldman; Yoshihide Sunada; Leland E. Lim; F. Piccolo; S Cutshall; F Gary; F Quetier; Jean-Claude Kaplan; Charles E. Jackson; Jacques S. Beckmann; Kevin P. Campbell

The sarcoglycan complex is involved in the etiology of four autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F). A missense mutation (T151R) in the beta-sarcoglycan gene on chromosome 4q12 has been shown to cause a mild form of LGMD2E in 11 families from a Southern Indiana Amish community sharing a common haplotype. We now report that two sibs from another Amish family with mild LGMD2E are compound heterozygotes for chromosome 4q12 markers. In order to characterize the genetic defect in this new family, we determined the genomic organization of the beta-sarcoglycan gene. A second missense mutation (R91C) has now been identified in this LGMD2E Amish family. This mutation is also present in the homozygous state in another family of probable Amish ancestry. Finally, analysis of all the components of the dystrophin-glycoprotein complex was performed for the first time on a biopsy from a patient homozygous for the beta-sarcoglycan mutation (T151R). Interestingly, in addition to the loss of the entire sarcoglycan complex, we detected a reduction of alpha-dystroglycan which suggests a role for the sarcoglycan complex in stabilizing alpha-dystroglycan at the sarcolemma.


Neuromuscular Disorders | 1996

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

Jacques S. Beckmann; Isabelle Richard; Odile Broux; Françoise Fougerousse; Nathalie Bourg; L. Brenguier; Valérie Allamand; Nuchanard Chiannilkulchai; Carinne Roudaut; Franck Duclos; Leland E. Lim; Yoshihide Sunada; Jon Meyer; Carolyn R. Moomaw; Clive A. Slaughter; Fernando M.S. Tomé; Charles E. Jackson; Michel Fardeau; Kevin P. Campbell

The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.


Nature Genetics | 1995

|[beta]||[ndash]|sarcoglycan: characterization and role in limb|[ndash]|girdle muscular dystrophy linked to 4q12

Leland E. Lim; Franck Duclos; Odile Broux; Nathalie Bourg; Yoshihide Sunada; Valérie Allamand; Jon Meyer; Isabelle Richard; Carolyn R. Moomaw; Clive A. Slaughter; Fernando M.S. Tomé; Michel Fardeau; Charles E. Jackson; Jacques S. Beckmann; Kevin P. Campbell

β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan cDNA and mapped the β–sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb–girdle muscular dystrophy in several Amish families. A Thr–to–Arg missense mutation was identified within the β–sarcoglycan gene that leads to a dramatically reduced expression of β–sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin–glycoprotein complex. Thus, the β–sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb–girdle muscular dystrophy.


Journal of Cell Biology | 1998

Progressive Muscular Dystrophy in α-Sarcoglycan–deficient Mice

Franck Duclos; Volker Straub; Steven A. Moore; David Venzke; Ron F. Hrstka; Rachelle H. Crosbie; Madeleine Durbeej; Connie S. Lebakken; Audrey J. Ettinger; Jack H. van der Meulen; Kathleen H. Holt; Leland E. Lim; Joshua R. Sanes; Beverly L. Davidson; John A. Faulkner; Roger A. Williamson; Kevin P. Campbell


Journal of Virology | 1999

Minimum Requirements for Efficient Transduction of Dividing and Nondividing Cells by Feline Immunodeficiency Virus Vectors

Julie C. Johnston; Mehdi Gasmi; Leland E. Lim; John H. Elder; Jiing-Kuan Yee; Douglas J. Jolly; Kevin P. Campbell; Beverly L. Davidson; Sybille L. Sauter

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Kevin P. Campbell

Roy J. and Lucille A. Carver College of Medicine

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Franck Duclos

Howard Hughes Medical Institute

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Odile Broux

Centre national de la recherche scientifique

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Nathalie Bourg

Centre national de la recherche scientifique

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Carolyn R. Moomaw

University of Texas Southwestern Medical Center

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Jon Meyer

Howard Hughes Medical Institute

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