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Cristian Pattaro et al.
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FoSheng Hsu et al.
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Suyong Choi et al.
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Leopoldo Staiano et al.
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Edward L. Huttlin et al.
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Florian Recker et al.
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Na Luo et al.
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Verena Tenten et al.
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Mariella Vicinanza et al.
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Haifa Hichri et al.
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Susan P. Bothwell et al.
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Tomonori Kimura et al.
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Carsten A. Boeger et al.
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Christopher J. Noakes et al.
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Daphne Dambournet et al.
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Richard J. Baines et al.
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Dominique Lasne et al.
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Peter Satir et al.
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Susan P. Bothwell et al.
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Taro Kawai et al.
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Sarah C. Goetz et al.
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Olivier Devuyst et al.
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Rikke Nielsen et al.
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Laura E. Swan et al.
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Andreas Knoedler et al.
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The delivery of endocytosed cargo to lysosomes
J. Paul Luzio et al.
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Thomas Braulke et al.
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Yuxin Mao et al.
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Kotb Abdelmohsen et al.
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Brian G. Coon et al.
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Arend Bokenkamp et al.
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Paul Saftig et al.
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Antony E. Shrimpton et al.
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Vanessa Plans et al.
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Silvia Vergarajauregui et al.
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Noboru Mizushima et al.
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Harriet M. Loovers et al.
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Noora Hyvola et al.
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CP Ponting
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V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway
A Hurtado-Lorenzo et al.
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Milena Cau et al.
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HW Shin et al.
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G Coudroy et al.
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R Choudhury et al.
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A Faucherre et al.
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Dent disease with mutations in OCRL1
RR Hoopes et al.
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JC Fyfe et al.
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A Ungewickell et al.
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RN Sener
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AC Schmid et al.
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HR Wang et al.
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Actin filament uncapping localizes to ruffling lamellae and rocketing vesicles
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Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases
Y Gu et al.
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A Faucherre et al.
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Human RhoGAP domain-containing proteins: structure, function and evolutionary relationships
J Peck et al.
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Disabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptor
SK Mishra et al.
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Megalin and cubilin: Multifunctional endocytic receptors
EI Christensen et al.
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Ocrl1, a Ptdlns(4.5)P2 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells
MA Dressman et al.
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Carrier assessment in families with Lowe oculocerebrorenal syndrome: Novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination
W Roschinger et al.
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