Weihl Lab

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Weihl CC, Ghadge GD, Miller RJ, Roos RP. (1999) Processing of wild-type and mutant familial Alzheimer’s Disease-associated presenilin-1 in cultured neurons. J. Neurochem. 73: 31-40.

 

Weihl CC, Ghadge GD, Kennedy SG, Hay N, Miller RJ, Roos RP. (1999) Mutant presenilin-1 induces apoptosis and downregulates Akt/PKB. J. Neuroscience. 19: 5360-5369.

 

Weihl CC, Miller RJ, Roos RP. (1999) The role of ß-catenin stability in mutant presenilin-1 associated apoptosis. NeuroReport. 10: 2527-2532.

 

Weihl CC and Roos RP. (1999) Creutzfeldt-Jakob Disease, New Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy. Neurology Clinics. 17: 835-859.

 

Weihl CC. (1999) ß-catenin and Presenilin-1. Alzheimer’s Reports. 2: 195-198.

 

 

Weihl CC, Miller SE, Hanson PI, and Pestronk A. (2007) Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice. Human Molecular Genetics. 16(8): 919-28

 

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC , Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. (2007) Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clinical Genetics, 72(5): 420-26.

 

Weihl CC, Temiz P, Miller SE, Watts GD, Smith CS, Forman M, Hanson PI, Kimonis V, and Pestronk A. (2008) TDP-43 accumulation in IBM muscle suggests a common pathogenic mechanism with frontotemporal dementias. Journal of Neurosurgery, Neurology and Psychiatry. 79(10): 1186-9.

 

Ju J-S, Miller SE, Hanson PI, and Weihl CC. (2008) Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP associated disease. Journal of Biological Chemistry. 283(44): 30289-99.

 

Temiz P, Weihl CC, Pestronk A. (2008) Inflammatory myopathies with mitochondrial pathology and protein aggregates. Journal of Neurological Sciences. 278(1-2): 25-9.
 
 
 
 
 
Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju J-S, Pestronk A, Connolly AM, Druley TE, Weihl CC, and Dobbs MB. (2010) Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Human Molecular Genetics 19(7): 1165-73.
 

Fuentealba RA, Udan M, Bell S, Wegorzewska I, Shao J, Diamond MI, Weihl CC, Baloh RH. (2010) Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43. Journal of Biological Chemistry. 285(34):26304-14.

Weihl CC and Pestronk A. (2010) Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers. Current Opinion in Neurology. 23(5):482-488.

Varadhachary AS, Weihl CC, and Pestronk A. (2010) Mitochondrial pathology in immune and inflammatory myopathies. Current Opinion in Rheumatology. 22(6):651-657.

Weihl CC. (2010) Valosin containing protein mutations in fronto-temporal lobar degeneration: Clinical presentation, pathology and pathogenesis. Current Alzheimer Research. 8(3):252-260  (Invited review).

Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH and Al-Lozi M. (2010) Novel GNE mutations in two phenotypically distinct HIBM2 patients. Neuromuscular Disorders.  21(2):102-105.
 
Andley UP, Hamilton PD, Ravi N and Weihl CC. (2011) A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts. Plos One.  6(3):e17671.
 
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) Endolysosomal sorting of ubiquitinated caveolin-1 is regulated by VCP/p97 and UBXD1 and impaired by VCP disease mutations. Nature Cell Biology. 13(9):1116-11123 *Co-corresponding authors.

Fuentealba RA, Marasa J, Diamond MI, Piwnica-Worms D, Weihl CC. (2011) An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors. Human Molecular Genetics (online).