S. Stahl

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans

S. Slaugenhaupt, J. Acierno, J. Falardeau, 2002, BMC Genomics.

Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol.

R. Schiffmann, S. Karlsson, P. H. Correll, 1994, Experimental hematology.

Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients: successful engraftment and long-term expression of the transgene.

R. Schiffmann, S. Karlsson, J. Medin, 1995, Blood.

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

R. Schiffmann, J. Nagle, S. Slaugenhaupt, 2000, Human molecular genetics.

Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.

R. Schiffmann, A. Kulkarni, J. Ward, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV

R. Schiffmann, R. Brady, J. R. Ellis, 2004, Human mutation.

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

W. H. Goldmann, W. Goldmann, H. Cantiello, 2004, Human molecular genetics.