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Select item 96024111.

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam, Peter Kannu

Genes (Basel) 2022 Oct; 13(10): 1743. Published online 2022 Sep 27. doi: 10.3390/genes13101743

PMCID:: PMC9602411

Abstract Article PDF–1.7M

Select item 92911002.

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin, Yin‐Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C. Kasper, Hsiang‐Yu Lin, Shuan‐Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin

Hum Mutat. 2021 Nov; 42(11): 1384–1398. Published online 2021 Aug 23. doi: 10.1002/humu.24270

PMCID:: PMC9291100

Abstract Article PDF–2.0M

Select item 92316233.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 92107474.

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth

BMC Genomics. 2022; 23: 458. Published online 2022 Jun 21. doi: 10.1186/s12864-022-08693-4

PMCID:: PMC9210747

Abstract Article PDF–1.9M

Select item 81650305.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 67096356.

Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6

Brianna E. Talbot, David H. Vandorpe, Brian R. Stotter, Seth L. Alper, Johannes S. Schlondorff

J Biol Chem. 2019 Aug 23; 294(34): 12655–12669. Published online 2019 Jul 2. doi: 10.1074/jbc.RA119.008299

PMCID:: PMC6709635

Abstract Article PDF–2.5M

Select item 64839707.

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Anna Kulpanovich, Elżbieta Ciara, Jolanta Marucha, Anna Tylki-Szymańska

J Appl Genet. 2019; 60(2): 163–174. Published online 2019 Mar 30. doi: 10.1007/s13353-019-00491-1

PMCID:: PMC6483970

Abstract Article PDF–1.7M

Select item 61805718.

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone

BMC Med Genet. 2018; 19: 183. Published online 2018 Oct 11. doi: 10.1186/s12881-018-0694-6

PMCID:: PMC6180571

Abstract Article PDF–1.2M

Select item 61756439.

Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA

Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 18–37. Published online 2018 May 15. doi: 10.1016/j.ymgme.2018.05.004

PMCID:: PMC6175643

Abstract Article PDF–1.1M

Select item 553161110.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 503652711.

Panorama of ancient metazoan macromolecular complexes

Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili

Nature. Author manuscript; available in PMC 2016 Sep 26.

Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877

PMCID:: PMC5036527

Abstract Article PDF–4.7M

Select item 461721112.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 423874713.

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database

Amelia Morrone, Anna Caciotti, Robert Atwood, Kathryn Davidson, Chaoyi Du, Patricia Francis-Lyon, Paul Harmatz, Matthew Mealiffe, Sean Mooney, Tal Ronnen Oron, April Ryles, Karl A Zawadzki, Nicole Miller

Hum Mutat. 2014 Nov; 35(11): 1271–1279. Published online 2014 Sep 17. doi: 10.1002/humu.22635

PMCID:: PMC4238747

Abstract Article PDF–500K

Select item 420367314.

Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations

A Morrone, K.L. Tylee, M Al-Sayed, A.C. Brusius-Facchin, A. Caciotti, H.J. Church, M.J. Coll, K. Davidson, M.J. Fietz, L. Gort, M. Hegde, F. Kubaski, L. Lacerda, F. Laranjeira, S. Leistner-Segal, S. Mooney, S. Pajares, L. Pollard, I. Riberio, R.Y. Wang, N. Miller

Mol Genet Metab. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Mol Genet Metab. 2014 Jun; 112(2): 160–170. Published online 2014 Mar 20. doi: 10.1016/j.ymgme.2014.03.004

Correction in:: volume 113 on page 237

PMCID:: PMC4203673

Abstract Article PDF–1.0M

Select item 377983715.

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels

Vu Chi Dũng, Shunji Tomatsu, Adriana M. Montaño, Gary Gottesman, Michael B. Bober, William Mackenzie, Miho Maeda, Grant A. Mitchell, Yasuyuki Suzuki, Tadao Orii

Mol Genet Metab. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(0): 129–138. Published online 2013 Jun 26. doi: 10.1016/j.ymgme.2013.06.008

PMCID:: PMC3779837

Abstract Article PDF–665K

Select item 377350516.

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine

Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake

Proteomics. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561