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M

May Christine V. Malicdan

national institutes of health (nih) - usa
H指数:50
被引数:8,694

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications
IF15.7
2025-11-260
OA
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

分析溶酶体游离唾液酸贮积症小鼠和人细胞模型中神经节苷脂的变化

MOLECULAR GENETICS AND METABOLISM REPORTS
IF1.9
2025-11-010
OAAI
Sabir, Marya S.; Dobrenis, Kostantin; Rha, Allisandra K.; Pollard, Laura; Leoyklang, Petcharat; Marrero, Mariah; Ciccone, Carla; Hackbarth, Mary E.; Huizing, Marjan; Wang, Raymond Y.; Gahl, William A.; Platt, Frances M.; Malicdan, May Christine V.
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-011
PRE
Morimoto, Marie; Ryu, Eunjin; Steger, Benjamin J.; Dixit, Abhijit; Saito, Yoshihiko; Yoo, Juyeong; van der Ven, Amelie T.; Hauser, Natalie; Steinbach, Peter J.; Oura, Kazumasa; Huang, Alden Y.; Kortum, Fanny; Ninomiya, Shinsuke; Rosenthal, Elisabeth A.; Robinson, Hannah K.; Guegan, Katie; Denecke, Jonas; Subramony, Sankarasubramoney H.; Diamonstein, Callie J.; Ping, Jie; Fenner, Mark; Balton, Elsa, V; Strohbehn, Sam; Allworth, Aimee; Bamshad, Michael J.; Gandhi, Mahi; Dipple, Katrina M.; Blue, Elizabeth E.; Jarvik, Gail P.; Lau, C. Christopher; Holm, Ingrid A.; Weisz-Hubshman, Monika; Solomon, Benjamin D.; Nelson, Stanley F.; Nishino, Ichizo; Adams, David R.; Kang, Sukhyun; Gahl, William A.; Toro, Camilo; Myung, Kyungjae; Malicdan, May Christine V.
ERMA (TMEM94) is a P-type ATPase transporter for Mg 2+ uptake in the endoplasmic reticulum

ERMA (TMEM94) 是内质网中Mg 2摄取的P型atp酶转运蛋白

MOLECULAR CELL
IF16.6
2024-04-013
PRE
Vishnu, Neelanjan; Venkatesan, Manigandan; Madaris, Travis R.; Venkateswaran, Mridula K.; Stanley, Kristen; Ramachandran, Karthik; Chidambaram, Adhishree; Madesh, Abitha K.; Yang, Wenli; Nair, Jyotsna; Narkunan, Melanie; Muthukumar, Tharani; Karanam, Varsha; Joseph, Leroy C.; Le, Amy; Osidele, Ayodeji; Aslam, M. Imran; Morrow, John P.; Malicdan, May C.; Stathopulos, Peter B.; Madesh, Muniswamy
Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-02-010
PRE
Malicdan, May Christine; Adams, David R.; Brooks, P. J.; Dobrenis, Konstantin; Gahl, William A.; Gasnier, Bruno; Hackbarth, Mary E.; Hossain, Mahin; Leoyklang, Petcharat; Anne-Longin, Christine; Paavola, Liisa; Platt, Frances; Pollard, Laura; Reimer, Richard; Sabir, Marya S.; Wang, Raymond Y.; Walkley, Steven; Wasserstein, Melissa; Huizing, Marjan
In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis

Hermansky-pudlak综合征肺纤维化的候选药物S-MRI-1867的体外和体内药代动力学表征，手性转化和PBPK缩放

BIOMEDICINE & PHARMACOTHERAPY
IF7.5
2023-12-011
OAAI
Padilha, Elias C.; Yang, Mengbi; Shah, Pranav; Wang, Amy Q.; Duan, Jianmin; Park, Joshua K.; Zawatsky, Charles N.; Malicdan, May Christine V.; Kunos, George; Iyer, Malliga R.; Gaucher, Genevieve; Ravenelle, Francois; Cinar, Resat; Xu, Xin
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-10-036
PRE
Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C.; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R.; Gallin, John, I; Holland, Steven M.; Rosenzweig, Sergio D.; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A.; Introne, Wendy J.; Malicdan, May Christine, V
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-04-014
OAAI
Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V.

研究方向

暂未获取到该数据
W
William A. Gahl
H 指数:104论文数:1,264被引数:3.9万
D
David R. Adams
H 指数:64论文数:395被引数:1.7万
M
Marjan Huizing
H 指数:59论文数:240被引数:1.1万
C
Camilo Toro
H 指数:57论文数:325被引数:1.1万
C
Cynthia J. Tifft
H 指数:54论文数:312被引数:1.1万
L
Lynne A. Wolfe
H 指数:47论文数:185被引数:7,062
T
Thierry Vilboux
H 指数:31论文数:108被引数:2,926
I
Ichizo Nishino
H 指数:87论文数:1,190被引数:4.3万
T
Thomas C. Markello
H 指数:49论文数:153被引数:7,273
W
Wendy J. Introne
H 指数:28论文数:123被引数:4,194