See a complete list of publications here: Conrad Weihl — Research Profiles at Washington University School of Medicine (wustl.edu)
2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL,Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG,Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC & Shinawi, MS
Am. J. Hum. Genet. 2023 Nov 2. doi: 10.1016/j.ajhg.2023.10.007. Online ahead of print.
PMID: 37883978
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl CC, Shy ME, Marques W, Zuchner S.
Brain. 2023 Oct 3. doi: 10.1093/brain/awad158.
PMID: 37170631
Li C, Wilborn J, Pittman S, Daw J, Alonso-Pérez J, Díaz-Manera J, Weihl CC, Haller G.
J Clin Invest. 2023 Jun 15. doi: 10.1172/JCI168156.
PMID: 37317968
Molecular and cellular basis of genetically inherited skeletal muscle disorders.
Dowling JJ, Weihl CC, Spencer MJ.
Nat Rev Mol Cell Biol. 2021 Jul 13. doi: 10.1038/s41580-021-00389-z. Online ahead of print.
PMID: 34257452 Review.
Neuronal VCP loss of function recapitulates FTLD-TDP pathology.
Wani A, Zhu J, Ulrich JD, Eteleeb A, Sauerbeck AD, Reitz SJ, Arhzaouy K, Ikenaga C, Yuede CM, Pittman SK, Wang F, Li S, Benitez BA, Cruchaga C, Kummer TT, Harari O, Chou TF, Schröder R, Clemen CS, Weihl CC.
Cell Rep. 2021 Jul 20;36(3):109399. doi: 10.1016/j.celrep.2021.109399.
PMID: 34289347
High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy.
Zhang X, Sergin I, Evans TD, Jeong SJ, Rodriguez-Velez A, Kapoor D, Chen S, Song E, Holloway KB, Crowley JR, Epelman S, Weihl CC, Diwan A, Fan D, Mittendorfer B, Stitziel NO, Schilling JD, Lodhi IJ, Razani B.
Nat Metab. 2020 Sep;2(9):991. doi: 10.1038/s42255-020-00291-6
PMID: 32908252
Ikenaga C, Findlay AR, Goyal NA, Robinson S, Cauchi J, Hussain Y, Wang LH, Kershen JC, Beson BA, Wallendorf M, Bucelli RC, Mozaffar T, Pestronk A, Weihl CC.
Ann Clin Transl Neurol. 2021 Mar;8(3):571-578. doi: 10.1002/acn3.51294. Epub 2021 Feb 8.
PMID: 33556224
Optimizing hand-function patient outcome measures for inclusion body myositis.
Lin AY, Siener CS, Faino AV, Seiffert M, Weihl CC, Wang LH.
Neuromuscul Disord. 2020 Aug 19:S0960-8966(20)30555-1. doi: 10.1016/j.nmd.2020.08.358. Online ahead of print.
PMID: 32928647
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Bengoechea R, Findlay AR, Bhadra AK, Shao H, Stein KC, Pittman SK, Daw J, Gestwicki JE, True HL, Weihl CC.
J Clin Invest. 2020 May 19:136167. doi: 10.1172/JCI136167. Online ahead of print.
PMID: 32427588
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain.
Pullen MY, Weihl CC, True HL.
PLoS One. 2020 Jun 4;15(6):e0234207. doi: 10.1371/journal.pone.0234207. eCollection 2020.
PMID: 32497100
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C, Findlay AR, Seiffert M, Peck A, Peck N, Johnson NE, Statland JM, Weihl CC.
Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0.
PMID: 32993728
Lin AY, Clapp M, Karanja E, Dooley K, Weihl CC, Wang LH.
Neuromuscul Disord. 2020 Mar;30(3):200-206. doi: 10.1016/j.nmd.2019.12.002. Epub 2019 Dec 17.
PMID: 32057637
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
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
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
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
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
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
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
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
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
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
Ching JK, Weihl CC.
Autophagy. 2013 May;9(5):799-800. doi: 10.4161/auto.23958. Epub 2013 Feb 25.
PMID:23439279
Weihl CC.
Neurotherapeutics. 2013 Jul;10(3):383-90. doi: 10.1007/s13311-013-0180-y. Review.
PMID:23408309
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
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
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
Andley UP, Hamilton PD, Ravi N, Weihl CC.
PLoS One. 2011 Mar 18;6(3):e17671. doi: 10.1371/journal.pone.0017671.
PMID:21445271
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
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
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
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
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
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
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
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
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
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
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
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