DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1

Authors: Findlay, Andrew R., Paing, May M., Daw, Jil A., Haller, Meade, Bengoechea, Rocio, Pittman, Sara K., Li, Shan, Wang, Feng, Miller, Timothy M., True, Heather L., Chou, Tsui-Fen, Weihl, Conrad C.

Source: Molecular therapy.Nucleic acids. 32:937-948

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194168235.0x000001&indx=1&recIds=ETOCvdc_100194168235.0x000001

Genetic deletion of skeletal muscle iPLA2γ results in mitochondrial dysfunction, muscle atrophy and alterations in whole-body energy metabolism

Authors: Moon, Sung Ho ¹, Dilthey, Beverly Gibson ¹, Guan, Shaoping ¹, Sims, Harold F. ¹, Pittman, Sara K. ², Keith, Amy L. ², Jenkins, Christopher M. ¹, Weihl, Conrad C. ², Gross, Richard W. ^{1, 3, 4, 5, 6, ∗}

Source: In iScience 16 June 2023 26(6)

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

Authors: Wani, Abubakar, Zhu, Jiang, Ulrich, Jason D., Eteleeb, Abdallah, Sauerbeck, Andrew D., Reitz, Sydney J., Arhzaouy, Khalid, Ikenaga, Chiseko, Yuede, Carla M., Pittman, Sara K., Wang, Feng, Li, Shan, Benitez, Bruno A., Cruchaga, Carlos, Kummer, Terrance T., Harari, Oscar, Chou, Tsui-Fen, Schröder, Rolf, Clemen, Christoph S., Weihl, Conrad C.

Source: In Cell Reports 20 July 2021 36(3)

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

Authors: Kedia, Niraja, Arhzaouy, Khalid, Pittman, Sara K., Sun, Yuanzi, Batchelor, Mark, Weihl, Conrad C., Bieschke, Jan

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Aug . 116(34), 16835-16840.

Access URL: https://www.jstor.org/stable/26850552

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

Authors: Arhzaouy, Khalid, Papadopoulos, Chrisovalantis, Schulze, Nina, Pittman, Sara K., Meyer, Hemmo, Weihl, Conrad C.

Source: Autophagy. 15(6):1082-1099

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100080891805.0x000001&indx=1&recIds=ETOCvdc_100080891805.0x000001

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

Authors: Schweitzer, George G., Collier, Sara L., Chen, Zhouji, Mccommis, Kyle S., Pittman, Sara K., Yoshino, Jun, Matkovich, Scot J., Hsu, Fong-Fu, Chrast, Roman, Eaton, James M., Harris, Thurl E., Weihl, Conrad C., Finck, Brian N.

Source: FASEB journal. 33(1):652-667

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103326716.0x000001&indx=1&recIds=ETOCvdc_100103326716.0x000001

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

Authors: Weihl, Conrad C. ^*, Baloh, Robert H., Lee, Youjin, Chou, Tsui-Fen, Pittman, Sara K., Lopate, Glenn, Allred, Peggy, Jockel-Balsarotti, Jennifer, Pestronk, Alan, Harms, Matthew B.

Source: In Neuromuscular Disorders April 2015 25(4):289-296

Autophagic vacuolar pathology in desminopathies

Authors: Weihl, Conrad C. ^*, Iyadurai, Stanley, Baloh, Robert H., Pittman, Sara K., Schmidt, Robert E., Lopate, Glenn, Pestronk, Alan, Harms, Matthew B.

Source: In Neuromuscular Disorders March 2015 25(3):199-206

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

Authors: Lee, YouJin, Chou, Tsui-Fen, Pittman, Sara K., Keith, Amy L., Razani, Babak, Weihl, Conrad C.

Source: Cell reports. 19(1):188-202

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100063241423.0x000001&indx=1&recIds=ETOCvdc_100063241423.0x000001

TMEM184b Promotes Axon Degeneration and Neuromuscular Junction Maintenance

Authors: Bhattacharya, Martha R. C., Geisler, Stefanie, Pittman, Sara K., Doan, Ryan A., Weihl, Conrad C., Milbrandt, Jeffrey, DiAntonio, Aaron

Source: Journal of neuroscience. 36(17):4681-4697

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN606079082&indx=1&recIds=ETOCRN606079082

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Authors: Bucelli, Robert C., Arhzaouy, Khalid, Pestronk, Alan, Pittman, Sara K., Rojas, Luisa, Sue, Carolyn M., Evilä, Anni, Hackman, Peter, Udd, Bjarne, Harms, Matthew B., Weihl, Conrad C.

Source: Neurology. 85(8):665-674

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037117391.0x000001&indx=1&recIds=ETOCvdc_100037117391.0x000001

Increased autophagy accelerates colchicine-induced muscle toxicity

Authors: Ching, James K, Ju, Jeong Sun, Pittman, Sara K, Margeta, Marta, Weihl, Conrad C

Source: Autophagy. 9(12):2115-2125

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050707432.0x000001&indx=1&recIds=ETOCvdc_100050707432.0x000001

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Authors: Inoue, Michio, Noguchi, Satoru, Inoue, Yukiko U., Iida, Aritoshi, Ogawa, Megumu, Bengoechea, Rocio, Pittman, Sara K., Hayashi, Shinichiro, Watanabe, Kazuki, Hosoi, Yasushi, Sano, Terunori, Takao, Masaki, Oya, Yasushi, Takahashi, Yuji, Miyajima, Hiroaki, Weihl, Conrad C., Inoue, Takayoshi, Nishino, Ichizo

Source: Acta Neuropathologica; Feb2023, Vol. 145 Issue 2, p235-255, 21p

Subject Terms: SKELETAL muscle, SOLEUS muscle, HEAT shock proteins, MUSCLE weakness, KNOCKOUT mice, MOLECULAR chaperones

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

Authors: Bengoechea, Rocio, Findlay, Andrew R., Bhadra, Ankan K., Shao, Hao, Stein, Kevin C., Pittman, Sara K., Daw, Jil A. W., Gestwicki, Jason E., True, Heather L., Weihl, Conrad C.

Source: Journal of clinical investigation. 130(8):4470-4470

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN624350453&indx=1&recIds=ETOCRN624350453

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