News & Publications for:

Chris Weihl

A knock-in mouse model for the R120G mutation of AlphaB-crystallin recapitulates human hereditary myopathy and cataracts

Posted on October 24, 2011

Andley UP, Hamilton PD, Ravi N, Weihl CC (2011). PLoS One, 6(3):e17671
Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty:

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

Posted on October 14, 2011

Ritz D, Vuk M, Kirchner P, Bug M, Schütz S, Hayer A, Bremer S, Lusk C, Baloh RH, Lee H, Glatter T, Gstaiger M, Aebersold R, Weihl CC, Meyer H (2011). Nat Cell Biol, 13(9):1116-23
Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty: ,

Mitochondrial pathology in immune and inflammatory myopathies

Posted on October 24, 2010

Varadhachary AS, Weihl CC, Pestronk A (2010). Curr Opin Rheumatol, 22(6):651-7
Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty: ,

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43

Posted on October 13, 2010

Fuentealba RA, Udan M, Bell S, Wegorzewska I, Shao J, Diamond MI, Weihl CC, Baloh RH (2010). J Biol Chem, 285(34):26304-14
Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications, Therapeutics & Diagnostics Faculty: , ,

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Posted on October 11, 2010

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB (2010). Hum Mol Genet, 19(7):1165-73. PMCID:PMC2838534 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty: , ,