Failure to thrive and life-threatening complications due to inherited selective cobalamin malabsorption effectively managed in a juvenile Australian shepherd dog

Por Gold, Ashley J., Scott, Michael A., Fyfe, John C.
Publicado no Can Vet J (2015)

Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia

Por Fyfe, John C., Al-Tamimi, Raba' A., Castellani, Rudy J., Rosenstein, Diana, Goldowitz, Daniel, Henthorn, Paula S.
Publicado em 2010

A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy

Por Fyfe, John C., Al-Tamimi, Raba’ A., Liu, Junlong, Schäffer, Alejandro A., Agarwala, Richa, Henthorn, Paula S.
Publicado em 2011

Failure of lower motor neuron radial outgrowth precedes retrograde degeneration in a feline model of SMA

Por Wakeling, Erin N., Joussemet, Béatrice, Costiou, Patrick, Fanuel, Dominique, Moullier, Philippe, Barkats, Martine, Fyfe, John C.
Publicado em 2012

Characterization of a canine model of glycogen storage disease type IIIa

Por Yi, Haiqing, Thurberg, Beth L., Curtis, Sarah, Austin, Stephanie, Fyfe, John, Koeberl, Dwight D., Kishnani, Priya S., Sun, Baodong
Publicado em 2012

One hundred years of Arctic surface temperature variation due to anthropogenic influence

Por Fyfe, John C., von Salzen, Knut, Gillett, Nathan P., Arora, Vivek K., Flato, Gregory M., McConnell, Joseph R.
Publicado em 2013

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs

Por Fyfe, John C., Hemker, Shelby L., Venta, Patrick J., Fitzgerald, Caitlin A., Outerbridge, Catherine A., Myers, Sherry L., Giger, Urs
Publicado em 2013

Natural Progression of Canine Glycogen Storage Disease Type IIIa

Por Brooks, Elizabeth D, Yi, Haiqing, Austin, Stephanie L, Thurberg, Beth L, Young, Sarah P, Fyfe, John C, Kishnani, Priya S, Sun, Baodong
Publicado no Comp Med (2016)

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

Por Duque, Sandra, Joussemet, Béatrice, Riviere, Christel, Marais, Thibaut, Dubreil, Laurence, Douar, Anne-Marie, Fyfe, John, Moullier, Philippe, Colle, Marie-Anne, Barkats, Martine
Publicado em 2009

Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia

Por Kozyraki, Renata, Fyfe, John, Verroust, Pierre J., Jacobsen, Christian, Dautry-Varsat, Alice, Gburek, Jakub, Willnow, Thomas E., Christensen, Erik Ilsø, Moestrup, Søren K.
Publicado em 2001

Cubilin is an albumin binding protein important for renal tubular albumin reabsorption

Por Birn, Henrik, Fyfe, John C., Jacobsen, Christian, Mounier, Francoise, Verroust, Pierre J., Ørskov, Hans, Willnow, Thomas E., Moestrup, Søren K., Christensen, Erik I.
Publicado em 2000

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian fore...

Por Fyfe, John C., Kurzhals, Rebeccah L., Hawkins, Michelle G., Wang, Ping, Yuhki, Naoya, Giger, Urs, Van Winkle, Thomas J., Haskins, Mark E., Patterson, Donald F., Henthorn, Paula S.
Publicado em 2007

Large near-term projected snowpack loss over the western United States

Por Fyfe, John C., Derksen, Chris, Mudryk, Lawrence, Flato, Gregory M., Santer, Benjamin D., Swart, Neil C., Molotch, Noah P., Zhang, Xuebin, Wan, Hui, Arora, Vivek K., Scinocca, John, Jiao, Yanjun
Publicado no Nat Commun (2017)

Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3)

Por Nykjaer, Anders, Fyfe, John C., Kozyraki, Renata, Leheste, Jörg-Robert, Jacobsen, Christian, Nielsen, Morten S., Verroust, Pierre J., Aminoff, Maria, de la Chapelle, Albert, Moestrup, Søren K., Ray, Rahul, Gliemann, Jørgen, Willnow, Thomas E., Christensen, Erik I.
Publicado em 2001

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B(12)) absorption in vivo

Por He, Qianchuan, Madsen, Mette, Kilkenney, Adam, Gregory, Brittany, Christensen, Erik I., Vorum, Henrik, Højrup, Peter, Schäffer, Alejandro A., Kirkness, Ewen F., Tanner, Stephan M., de la Chapelle, Albert, Giger, Urs, Moestrup, Søren K., Fyfe, John C.
Publicado em 2005

An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival

Por Fyfe, John C., Menotti-Raymond, Marilyn, David, Victor A., Brichta, Lars, Schäffer, Alejandro A., Agarwala, Richa, Murphy, William J., Wedemeyer, William J., Gregory, Brittany L., Buzzell, Bethany G., Drummond, Meghan C., Wirth, Brunhilde, O'Brien, Stephen J.
Publicado em 2006