SEAL Therapeutics Ltd. aims to develop a gene therapy for the severe LAMA2-related muscular dystrophy (LAMA2 MD). He is also scientific advisor to several biotech companies for rare diseases, board member on several patient organizations for neuromuscular diseases and scientific editor for several renowned magazines. (wikipedia.org)
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)
Mutations of the LAMA2 gene are the most common cause of congenital muscular dystrophy that frequently leads to death in early childhood (Domogatskaya, 2012). (biolamina.com)
Deficiency1
Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. (medscape.com)
Proteins1
The agrin gene codes for a family of basal lamina proteins that differ in function and distribution. (wikipedia.org)
Gene1
Santhera Collaborating With Swiss Researchers to Develop New Gene Therapy for LAMA2 MD musculardystrophynews.com. (wikipedia.org)
Muscle6
Skeletal muscle-specific ablation of raptor, but not of rictor, causes metabolic changes and results in muscle dystrophy. (wikipedia.org)
Sustained Activation of mTORC1 in Skeletal Muscle Inhibits Constitutive and Starvation-Induced Autophagy and Causes a Severe, Late-Onset Myopathy. (wikipedia.org)
Biolaminin 221 supports the growth, survival, and differentiation of a wide range of tissue-specific cell types, including cardiac cells and skeletal muscle cells. (biolamina.com)
Laminin 221 is important for muscle development and function and is together with laminin 211 one of the main laminin isoforms present in adult muscle tissue, including varying amounts of laminin 521 and laminin 421 depending on the tissue. (biolamina.com)
For a review of α2-laminin in skeletal muscle function, see Holmberg and Durbeej, 2012. (biolamina.com)
A large series of patients with LAMA2 mutations was described, highlighting the differences between the severe homogenous presentation typical of patients with absent merosinimmunostaining with the more heterogeneous presentation of those with residual merosin expression. (medscape.com)
MDC1A2
MDC1A is caused by mutations in the laminin α2 gene ( LAMA2 ) linked to chromosome 6q22-q23 and inherited as autosomal recessive. (medscape.com)
Clinical variants of MDC1A occur with some mutations when only partial laminin-α2 deficiency is present. (medscape.com)
Myofibers1
Laminins are extracellular glycoproteins that bind with other extracellular and transmembrane proteins to form the frame of the basal lamina that surrounds individual myofibers. (medscape.com)
Deficient3
The entire 10 kb laminin alpha2 coding sequence of 22 completely laminin alpha2-deficient patients was screened for causative mutations by reverse transcription (RT)-PCR/single strand conformational polymorphisms (SSCP) analysis and protein truncation test (PTT) analysis followed by automatic sequencing of patient cDNA. (nih.gov)
Clinical data from the laminin alpha2-deficient patients were collected. (nih.gov)
Clinical features of laminin alpha2-deficient patients were similar, with severe floppiness at birth, delay in achievement of motor milestones, and MRI findings of white matter changes with normal intelligence. (nih.gov)
Mutations1
Thirty laminin alpha2-negative patients were identified (40% of CMD patients tested) and 22 of them were screened for laminin alpha2 mutations. (nih.gov)
Glycoproteins1
Laminin alpha2 is a muscle specific isoform of laminin localized to the basal lamina of muscle fibers, where it is thought to interact with myofiber membrane receptor, such as integrins, and possibly dystrophin-associated glycoproteins. (nih.gov)
Severe1
Sustained Activation of mTORC1 in Skeletal Muscle Inhibits Constitutive and Starvation-Induced Autophagy and Causes a Severe, Late-Onset Myopathy. (wikipedia.org)
Muscle-specific1
Skeletal muscle-specific ablation of raptor, but not of rictor, causes metabolic changes and results in muscle dystrophy. (wikipedia.org)
Patients1
Seventy-five CMD patients were tested for laminin alpha2 expression by immunofluorescence and immunoblot. (nih.gov)