Gentile G, Gamarra J, Engels N, Blue R, Hoerr I, Wiedner H
FASEB J. 2022; 36(8):e22441.
PMID: 35816155
PMC: 9836321.
DOI: 10.1096/fj.202101627RR.
Fujise K, Noguchi S, Takeda T
Int J Mol Sci. 2022; 23(11).
PMID: 35682949
PMC: 9181712.
DOI: 10.3390/ijms23116274.
Espinosa K, Geissah S, Groom L, Volpatti J, Scott I, Dirksen R
Dis Model Mech. 2022; 15(5).
PMID: 35293586
PMC: 9118044.
DOI: 10.1242/dmm.049437.
Hinkle E, Wiedner H, Torres E, Jackson M, Black A, Blue R
RNA. 2022; 28(4):523-540.
PMID: 35082143
PMC: 8925968.
DOI: 10.1261/rna.078993.121.
Gutierrez-Perez P, Santillan E, Lendl T, Wang J, Schrempf A, Steinacker T
Sci Adv. 2021; 7(42):eabh1434.
PMID: 34652942
PMC: 8519577.
DOI: 10.1126/sciadv.abh1434.
Molecular and cellular basis of genetically inherited skeletal muscle disorders.
Dowling J, Weihl C, Spencer M
Nat Rev Mol Cell Biol. 2021; 22(11):713-732.
PMID: 34257452
PMC: 9686310.
DOI: 10.1038/s41580-021-00389-z.
De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.
Smith L, Fabian L, Al-Maawali A, Noche R, Dowling J
PLoS One. 2020; 15(8):e0231364.
PMID: 32804943
PMC: 7430711.
DOI: 10.1371/journal.pone.0231364.
How alternative splicing affects membrane-trafficking dynamics.
Blue R, Curry E, Engels N, Lee E, Giudice J
J Cell Sci. 2018; 131(10).
PMID: 29769303
PMC: 6031328.
DOI: 10.1242/jcs.216465.
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
Gonzalez-Jamett A, Baez-Matus X, Olivares M, Hinostroza F, Guerra-Fernandez M, Vasquez-Navarrete J
Sci Rep. 2017; 7(1):4580.
PMID: 28676641
PMC: 5496902.
DOI: 10.1038/s41598-017-04418-w.
Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1.
Moustaq L, Smaczynska-de Rooij I, Palmer S, Marklew C, Ayscough K
Microb Cell. 2017; 3(4):147-158.
PMID: 28357347
PMC: 5349089.
DOI: 10.15698/mic2016.04.490.
Alternative Splicing of Four Trafficking Genes Regulates Myofiber Structure and Skeletal Muscle Physiology.
Giudice J, Loehr J, Rodney G, Cooper T
Cell Rep. 2016; 17(8):1923-1933.
PMID: 27851958
PMC: 5140099.
DOI: 10.1016/j.celrep.2016.10.072.
Membrane fusion in muscle development and repair.
Demonbreun A, Biersmith B, McNally E
Semin Cell Dev Biol. 2015; 45:48-56.
PMID: 26537430
PMC: 4679555.
DOI: 10.1016/j.semcdb.2015.10.026.
Bridging integrator 1 (BIN1) protein expression increases in the Alzheimer's disease brain and correlates with neurofibrillary tangle pathology.
Holler C, Davis P, Beckett T, Platt T, Webb R, Head E
J Alzheimers Dis. 2014; 42(4):1221-7.
PMID: 25024306
PMC: 4198456.
DOI: 10.3233/JAD-132450.
Dynamin 2 the rescue for centronuclear myopathy.
Demonbreun A, McNally E
J Clin Invest. 2014; 124(3):976-8.
PMID: 24569368
PMC: 3938257.
DOI: 10.1172/JCI74434.
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.
James N, Digman M, Ross J, Barylko B, Wang L, Li J
Biochim Biophys Acta. 2013; 1840(1):315-21.
PMID: 24016602
PMC: 3859711.
DOI: 10.1016/j.bbagen.2013.09.001.
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Maurer M, Mary J, Guillaud L, Fender M, Pele M, Bilzer T
PLoS One. 2012; 7(10):e46408.
PMID: 23071563
PMC: 3465307.
DOI: 10.1371/journal.pone.0046408.
Neuromuscular effects of G93A-SOD1 expression in zebrafish.
Sakowski S, Lunn J, Busta A, Oh S, Zamora-Berridi G, Palmer M
Mol Neurodegener. 2012; 7:44.
PMID: 22938571
PMC: 3506515.
DOI: 10.1186/1750-1326-7-44.
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Dowling J, Joubert R, Low S, Durban A, Messaddeq N, Li X
Dis Model Mech. 2012; 5(6):852-9.
PMID: 22645112
PMC: 3484867.
DOI: 10.1242/dmm.009746.
The genetics and neuropathology of Alzheimer's disease.
Schellenberg G, Montine T
Acta Neuropathol. 2012; 124(3):305-23.
PMID: 22618995
PMC: 3708460.
DOI: 10.1007/s00401-012-0996-2.
Common membrane trafficking defects of disease-associated dynamin 2 mutations.
Liu Y, Lukiyanchuk V, Schmid S
Traffic. 2011; 12(11):1620-33.
PMID: 21762456
PMC: 3188678.
DOI: 10.1111/j.1600-0854.2011.01250.x.