Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B.

Neuromuscul Disord. 2019 Nov 19. pii: S0960-8966(19)31201-5. doi: 10.1016/j.nmd.2019.11.005. [Epub ahead of print]

PMID:31955980

 

A metastable subproteome underlies inclusion formation in muscle proteinopathies.

Ciryam P, Antalek M, Cid F, Tartaglia GG, Dobson CM, Guettsches AK, Eggers B, Vorgerd M, Marcus K, Kley RA, Morimoto RI, Vendruscolo M, Weihl CC.

Acta Neuropathol Commun. 2019 Dec 3;7(1):197. doi: 10.1186/s40478-019-0853-9.

PMID:31796104

 

Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies.

Weihl CC.

Continuum (Minneap Minn). 2019 Dec;25(6):1586-1598. doi: 10.1212/CON.0000000000000790.

PMID:31794461

 

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.

Kedia N, Arhzaouy K, Pittman SK, Sun Y, Batchelor M, Weihl CC, Bieschke J.

Proc Natl Acad Sci U S A. 2019 Aug 20;116(34):16835-16840. doi: 10.1073/pnas.1908263116. Epub 2019 Aug 1.

PMID:31371504

 

Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.

Hunter M, Heatwole C, Wicklund M, Weihl CC, Mozaffar T, Statland JM, Johnson NE.

Muscle Nerve. 2019 Oct;60(4):419-424. doi: 10.1002/mus.26636. Epub 2019 Jul 24.

PMID:31298728

 

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D.

Findlay AR, Bengoechea R, Pittman SK, Chou TF, True HL, Weihl CC.

Neurol Genet. 2019 Apr 18;5(2):e318. doi: 10.1212/NXG.0000000000000318. eCollection 2019 Apr.

PMID:31123706

 

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.

Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, Rufibach LE, Lek M.

Genet Med. 2019 Nov;21(11):2512-2520. doi: 10.1038/s41436-019-0544-8. Epub 2019 May 20.

PMID:31105274

 

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.

Arhzaouy K, Papadopoulos C, Schulze N, Pittman SK, Meyer H, Weihl CC.

Autophagy. 2019 Jun;15(6):1082-1099. doi: 10.1080/15548627.2019.1569933. Epub 2019 Jan 29.

PMID:30654731

 

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.

Meister-Broekema M, Freilich R, Jagadeesan C, Rauch JN, Bengoechea R, Motley WW, Kuiper EFE, Minoia M, Furtado GV, van Waarde MAWH, Bird SJ, Rebelo A, Zuchner S, Pytel P, Scherer SS, Morelli FF, Carra S, Weihl CC, Bergink S, Gestwicki JE, Kampinga HH.

Nat Commun. 2018 Dec 17;9(1):5342. doi: 10.1038/s41467-018-07718-5.

PMID:30559338

 

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.

Weihl CC, Udd B, Hanna M; ENMC workshop study group.

Neuromuscul Disord. 2018 Dec;28(12):1022-1030. doi: 10.1016/j.nmd.2018.09.004. Epub 2018 Sep 25. No abstract available.

PMID:30424919

 

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice.

Schweitzer GG, Collier SL, Chen Z, McCommis KS, Pittman SK, Yoshino J, Matkovich SJ, Hsu FF, Chrast R, Eaton JM, Harris TE, Weihl CC, Finck BN.

FASEB J. 2019 Jan;33(1):652-667. doi: 10.1096/fj.201800361R. Epub 2018 Jul 20.

PMID:30028636

 

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Findlay AR, Harms MB, Pestronk A, Weihl CC.

Neuromuscul Disord. 2018 Aug;28(8):675-679. doi: 10.1016/j.nmd.2018.05.006. Epub 2018 May 21.

PMID:29934118

 

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).

Garcia-Santibanez R, Zaidman CM, Sommerville RB, Lopate G, Weihl CC, Pestronk A, Bucelli RC.

J Neurol. 2018 Jun;265(6):1402-1409. doi: 10.1007/s00415-018-8853-4. Epub 2018 Apr 9.

PMID:29633012

 

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

PMID:29457785

 

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination.

Lee Y, Chou TF, Pittman SK, Keith AL, Razani B, Weihl CC.

Cell Rep. 2017 Aug 22;20(8):1994. doi: 10.1016/j.celrep.2017.08.019. No abstract available.

PMID:28834760

 

Regulation of SQSTM1/p62 via UBA domain ubiquitination and its role in disease.

Lee Y, Weihl CC.

Autophagy. 2017 Sep 2;13(9):1615-1616. doi: 10.1080/15548627.2017.1339845. Epub 2017 Aug 16.

PMID:28812433

 

Comparisons of ELISA and Western blot assays for detection of autophagy flux.

Oh SH, Choi YB, Kim JH, Weihl CC, Ju JS.

Data Brief. 2017 Jul 4;13:696-699. doi: 10.1016/j.dib.2017.06.045. eCollection 2017 Aug.

PMID:28725675

 

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Cabrera-Serrano M, Junckerstorff RC, Alisheri A, Pestronk A, Laing NG, Weihl CC, Lamont PJ.

Neuromuscul Disord. 2017 Sep;27(9):873-878. doi: 10.1016/j.nmd.2017.05.010. Epub 2017 May 15.

PMID:28629674

 

Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis.

Sergin I, Evans TD, Zhang X, Bhattacharya S, Stokes CJ, Song E, Ali S, Dehestani B, Holloway KB, Micevych PS, Javaheri A, Crowley JR, Ballabio A, Schilling JD, Epelman S, Weihl CC, Diwan A, Fan D, Zayed MA, Razani B.

Nat Commun. 2017 Jun 7;8:15750. doi: 10.1038/ncomms15750.

PMID:28589926

 

Quantification of autophagy flux using LC3 ELISA.

Oh SH, Choi YB, Kim JH, Weihl CC, Ju JS.

Anal Biochem. 2017 Aug 1;530:57-67. doi: 10.1016/j.ab.2017.05.003. Epub 2017 May 4.

PMID:28477964

 

Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies.

Bamaga AK, Weihl CC.

Neurol Genet. 2017 Mar 21;3(2):e146. doi: 10.1212/NXG.0000000000000146. eCollection 2017 Apr. No abstract available.

PMID:28357412

 

Sporadic inclusion body myositis – a myodegenerative disease or an inflammatory myopathy.

Weihl CC, Mammen AL.

Neuropathol Appl Neurobiol. 2017 Feb;43(1):82-91. doi: 10.1111/nan.12384. Review.

PMID:28111778

 

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA.

Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27.

PMID:28009083

 

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.

Papadopoulos C, Kirchner P, Bug M, Grum D, Koerver L, Schulze N, Poehler R, Dressler A, Fengler S, Arhzaouy K, Lux V, Ehrmann M, Weihl CC, Meyer H.

EMBO J. 2017 Jan 17;36(2):135-150. doi: 10.15252/embj.201695148. Epub 2016 Oct 17.

PMID:27753622

 

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Evangelista T, Weihl CC, Kimonis V, Lochmüller H; VCP related diseases Consortium.

Neuromuscul Disord. 2016 Aug;26(8):535-47. doi: 10.1016/j.nmd.2016.05.017. Epub 2016 May 30. No abstract available.

PMID:27312024

 

TMEM184b Promotes Axon Degeneration and Neuromuscular Junction Maintenance.

Bhattacharya MR, Geisler S, Pittman SK, Doan RA, Weihl CC, Milbrandt J, DiAntonio A.

J Neurosci. 2016 Apr 27;36(17):4681-9. doi: 10.1523/JNEUROSCI.2893-15.2016.

PMID:27122027

 

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. No abstract available. Erratum in: Autophagy. 2016;12(2):443. Selliez, Iban [corrected to Seiliez, Iban].

PMID:26799652

 

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.

Bengoechea R, Pittman SK, Tuck EP, True HL, Weihl CC.

Hum Mol Genet. 2015 Dec 1;24(23):6588-602. doi: 10.1093/hmg/ddv363. Epub 2015 Sep 11.

PMID:26362252

 

 

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC.

Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24.

PMID:26208961

 

In vivo kinetic approach reveals slow SOD1 turnover in the CNS.

Crisp MJ, Mawuenyega KG, Patterson BW, Reddy NC, Chott R, Self WK, Weihl CC, Jockel-Balsarotti J, Varadhachary AS, Bucelli RC, Yarasheski KE, Bateman RJ, Miller TM.

J Clin Invest. 2015 Jul 1;125(7):2772-80. doi: 10.1172/JCI80705. Epub 2015 Jun 15.

PMID:26075819

 

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A.

Case Rep Genet. 2015;2015:239167. doi: 10.1155/2015/239167. Epub 2015 Mar 23.

PMID:25878907

 

Altered cofactor regulation with disease-associated p97/VCP mutations.

Zhang X, Gui L, Zhang X, Bulfer SL, Sanghez V, Wong DE, Lee Y, Lehmann L, Lee JS, Shih PY, Lin HJ, Iacovino M, Weihl CC, Arkin MR, Wang Y, Chou TF.

Proc Natl Acad Sci U S A. 2015 Apr 7;112(14):E1705-14. doi: 10.1073/pnas.1418820112. Epub 2015 Mar 16.

PMID:25775548

 

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Weihl CC, Baloh RH, Lee Y, Chou TF, Pittman SK, Lopate G, Allred P, Jockel-Balsarotti J, Pestronk A, Harms MB.

Neuromuscul Disord. 2015 Apr;25(4):289-96. doi: 10.1016/j.nmd.2014.12.009. Epub 2015 Jan 6.

PMID:25617006

 

Autophagic vacuolar pathology in desminopathies.

Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, Pestronk A, Harms MB.

Neuromuscul Disord. 2015 Mar;25(3):199-206. doi: 10.1016/j.nmd.2014.12.002. Epub 2014 Dec 12.

PMID:25557463

 

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.

Meyer H, Weihl CC.

J Cell Sci. 2014 Sep 15;127(Pt 18):3877-83. doi: 10.1242/jcs.093831. Epub 2014 Aug 21. Review.

PMID:25146396

 

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME.

Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14.

PMID:25125609

 

Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.

Stein KC, Bengoechea R, Harms MB, Weihl CC, True HL.

J Biol Chem. 2014 Jul 25;289(30):21120-30.

PMID:24920671

 

Specific inhibition of p97/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains.

Chou TF, Bulfer SL, Weihl CC, Li K, Lis LG, Walters MA, Schoenen FJ, Lin HJ, Deshaies RJ, Arkin MR.

J Mol Biol. 2014 Jul 29;426(15):2886-99. doi: 10.1016/j.jmb.2014.05.022. Epub 2014 May 27.

PMID:24878061

 

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ.

Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.

PMID:24686783

 

Rapamycin nanoparticles target defective autophagy in muscular dystrophy to enhance both strength and cardiac function.

Bibee KP, Cheng YJ, Ching JK, Marsh JN, Li AJ, Keeling RM, Connolly AM, Golumbek PT, Myerson JW, Hu G, Chen J, Shannon WD, Lanza GM, Weihl CC, Wickline SA.

FASEB J. 2014 May;28(5):2047-61. doi: 10.1096/fj.13-237388. Epub 2014 Feb 5.

PMID:24500923

 

Increased autophagy accelerates colchicine-induced muscle toxicity.

Ching JK, Ju JS, Pittman SK, Margeta M, Weihl CC.

Autophagy. 2013 Dec;9(12):2115-25.

PMID:24184927

 

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.

Udan-Johns M, Bengoechea R, Bell S, Shao J, Diamond MI, True HL, Weihl CC, Baloh RH.

Hum Mol Genet. 2014 Jan 1;23(1):157-70. doi: 10.1093/hmg/ddt408. Epub 2013 Aug 19.

PMID:23962724

 

p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract.

Wignes JA, Goldman JW, Weihl CC, Bartley MG, Andley UP.

Exp Eye Res. 2013 Oct;115:263-73. doi: 10.1016/j.exer.2013.06.026. Epub 2013 Jul 18.

PMID:23872361

 

Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Benatar M, Wuu J, Fernandez C, Weihl CC, Katzen H, Steele J, Oskarsson B, Taylor JP.

Neurology. 2013 May 14;80(20):1874-80. doi: 10.1212/WNL.0b013e3182929fc3. Epub 2013 May 1.

PMID:23635965

 

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP.

Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.

PMID:23455423

 

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy.

Ching JK, Weihl CC.

Autophagy. 2013 May;9(5):799-800. doi: 10.4161/auto.23958. Epub 2013 Feb 25.

PMID:23439279

 

Monitoring autophagy in the treatment of protein aggregate diseases: steps toward identifying autophagic biomarkers.

Weihl CC.

Neurotherapeutics. 2013 Jul;10(3):383-90. doi: 10.1007/s13311-013-0180-y. Review.

PMID:23408309

 

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.

Ching JK, Elizabeth SV, Ju JS, Lusk C, Pittman SK, Weihl CC.

Hum Mol Genet. 2013 Mar 15;22(6):1167-79. doi: 10.1093/hmg/dds524. Epub 2012 Dec 18.

PMID:23250913

 

Guidelines for the use and interpretation of assays for monitoring autophagy.

Autophagy. 2012 Apr;8(4):445-544.

PMID:22966490

 

Hyperammonemia-mediated autophagy in skeletal muscle contributes to sarcopenia of cirrhosis.

Qiu J, Tsien C, Thapalaya S, Narayanan A, Weihl CC, Ching JK, Eghtesad B, Singh K, Fu X, Dubyak G, McDonald C, Almasan A, Hazen SL, Naga Prasad SV, Dasarathy S.

Am J Physiol Endocrinol Metab. 2012 Oct 15;303(8):E983-93. doi: 10.1152/ajpendo.00183.2012. Epub 2012 Aug 14.

PMID:22895779

 

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.

Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.

PMID:22334415

 

Another VCP interactor: NF is enough.

Weihl CC.

J Clin Invest. 2011 Dec;121(12):4627-30. doi: 10.1172/JCI61126. Epub 2011 Nov 21.

PMID:22105166

 

An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors.

Fuentealba RA, Marasa J, Diamond MI, Piwnica-Worms D, Weihl CC.

Hum Mol Genet. 2012 Feb 1;21(3):664-80. doi: 10.1093/hmg/ddr500. Epub 2011 Nov 3.

PMID:22052286

 

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

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.

Nat Cell Biol. 2011 Aug 7;13(9):1116-23. doi: 10.1038/ncb2301.

PMID:21822278

 

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

Andley UP, Hamilton PD, Ravi N, Weihl CC.

PLoS One. 2011 Mar 18;6(3):e17671. doi: 10.1371/journal.pone.0017671.

PMID:21445271

 

Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis.

Weihl CC.

Curr Alzheimer Res. 2011 May;8(3):252-60. Review.

PMID:21222596

 

Novel GNE mutations in two phenotypically distinct HIBM2 patients.

Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M.

Neuromuscul Disord. 2011 Feb;21(2):102-5. doi: 10.1016/j.nmd.2010.11.002. Epub 2010 Dec 4.

PMID:21131200

 

Mitochondrial pathology in immune and inflammatory myopathies.

Varadhachary AS, Weihl CC, Pestronk A.

Curr Opin Rheumatol. 2010 Nov;22(6):651-7. doi: 10.1097/BOR.0b013e32833f108a. Review.

PMID:20827203

 

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers.

Weihl CC, Pestronk A.

Curr Opin Neurol. 2010 Oct;23(5):482-8. doi: 10.1097/WCO.0b013e32833d3897. Review.

PMID:20664349

 

Quantitation of “autophagic flux” in mature skeletal muscle.

Ju JS, Varadhachary AS, Miller SE, Weihl CC.

Autophagy. 2010 Oct;6(7):929-35. doi: 10.4161/auto.6.7.12785. Epub 2010 Oct 24.

PMID:20657169

 

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

Fuentealba RA, Udan M, Bell S, Wegorzewska I, Shao J, Diamond MI, Weihl CC, Baloh RH.

J Biol Chem. 2010 Aug 20;285(34):26304-14. doi: 10.1074/jbc.M110.125039. Epub 2010 Jun 16.

PMID:20554523

 

Inclusion body myopathy, Paget’s disease of the bone and fronto-temporal dementia: a disorder of autophagy.

Ju JS, Weihl CC.

Hum Mol Genet. 2010 Apr 15;19(R1):R38-45. doi: 10.1093/hmg/ddq157. Epub 2010 Apr 21. Review.

PMID:20410287

 

p97/VCP at the intersection of the autophagy and the ubiquitin proteasome system.

Ju JS, Weihl CC.

Autophagy. 2010 Feb;6(2):283-5. Epub 2010 Mar 1. No abstract available.

PMID:20083896

 

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

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.

Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.

PMID:20045868

 

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.

Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, Weihl CC.

J Cell Biol. 2009 Dec 14;187(6):875-88. doi: 10.1083/jcb.200908115.

PMID:20008565

 

Acute and bilateral blindness due to optic neuropathy associated with copper deficiency.

Naismith RT, Shepherd JB, Weihl CC, Tutlam NT, Cross AH.

Arch Neurol. 2009 Aug;66(8):1025-7. doi: 10.1001/archneurol.2009.70.

PMID:19667226

 

Valosin-containing protein disease: inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia.

Weihl CC, Pestronk A, Kimonis VE.

Neuromuscul Disord. 2009 May;19(5):308-15. doi: 10.1016/j.nmd.2009.01.009. Epub 2009 Apr 19. Review.

PMID:19380227

 

Quantitation of selective autophagic protein aggregate degradation in vitro and in vivo using luciferase reporters.

Ju JS, Miller SE, Jackson E, Cadwell K, Piwnica-Worms D, Weihl CC.

Autophagy. 2009 May;5(4):511-9. Epub 2009 May 6. Erratum in: Autophagy. 2010 Jul;6(5):676.

PMID:19305149

 

Inflammatory myopathies with mitochondrial pathology and protein aggregates.

Temiz P, Weihl CC, Pestronk A.

J Neurol Sci. 2009 Mar 15;278(1-2):25-9. doi: 10.1016/j.jns.2008.11.010. Epub 2008 Dec 20.

PMID:19101700

 

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.

Weihl CC, Temiz P, Miller SE, Watts G, Smith C, Forman M, Hanson PI, Kimonis V, Pestronk A.

J Neurol Neurosurg Psychiatry. 2008 Oct;79(10):1186-9. doi: 10.1136/jnnp.2007.131334.

PMID:18796596

 

Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease.

Ju JS, Miller SE, Hanson PI, Weihl CC.

J Biol Chem. 2008 Oct 31;283(44):30289-99. doi: 10.1074/jbc.M805517200. Epub 2008 Aug 20.

PMID:18715868

 

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE.

Clin Genet. 2007 Nov;72(5):420-6.

PMID:17935506

 

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.

Weihl CC, Miller SE, Hanson PI, Pestronk A.

Hum Mol Genet. 2007 Apr 15;16(8):919-28. Epub 2007 Feb 28.

PMID:17329348

 

Motor neuron disease associated with copper deficiency.

Weihl CC, Lopate G.

Muscle Nerve. 2006 Dec;34(6):789-93.

PMID:16929546

 

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy.

Weihl CC, Connolly AM, Pestronk A.

Neurology. 2006 Aug 8;67(3):500-1. Epub 2006 Jun 14.

PMID:16775228

 

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.

Weihl CC, Dalal S, Pestronk A, Hanson PI.

Hum Mol Genet. 2006 Jan 15;15(2):189-99. Epub 2005 Dec 1.

PMID:16321991

 

Adenoviral gene transfer of nitric oxide synthase increases cerebral blood flow in rats.

Lüders JC, Weihl CC, Lin G, Ghadge G, Stoodley M, Roos RP, Macdonald RL.

Neurosurgery. 2000 Nov;47(5):1206-14; discussion 1214-5.

PMID:11063115

 

Effect of adenovirus-mediated nitric oxide synthase gene transfer on vasospasm after experimental subarachnoid hemorrhage.

Stoodley M, Weihl CC, Zhang ZD, Lin G, Johns LM, Kowalczuk A, Ghadge G, Roos RP, Macdonald RL.

Neurosurgery. 2000 May;46(5):1193-202; discussion 1202-3.

PMID:10807252

 

The role of beta-catenin stability in mutant PS1-associated apoptosis.

Weihl CC, Miller RJ, Roos RP.

Neuroreport. 1999 Aug 20;10(12):2527-32.

PMID:10574364

 

Creutzfeldt-Jakob disease, new variant creutzfeldt-jakob disease, and bovine spongiform encephalopathy.

Weihl CC, Roos RP.

Neurol Clin. 1999 Nov;17(4):835-59. Review.

PMID:10517931

 

Alternative translation initiation of Theiler’s murine encephalomyelitis virus.

Yamasaki K, Weihl CC, Roos RP.

J Virol. 1999 Oct;73(10):8519-26.

PMID:10482605

 

Processing of wild-type and mutant familial Alzheimer’s disease-associated presenilin-1 in cultured neurons.

Weihl CC, Ghadge GD, Miller RJ, Roos RP.

J Neurochem. 1999 Jul;73(1):31-40.

PMID:10386952

 

Mutant presenilin-1 induces apoptosis and downregulates Akt/PKB.

Weihl CC, Ghadge GD, Kennedy SG, Hay N, Miller RJ, Roos RP.

J Neurosci. 1999 Jul 1;19(13):5360-9.

PMID:10377346