Results 181 to 190 of about 13,826 (249)

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Shantanu Jain, Marena Trinidad, Thanh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R. Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert L. Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier de la Cruz, Rocío Acuña‐Hidalgo, Andrea Grafmüller, Laura T. Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E. Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T. Clark   +68 more
openalex   +2 more sources

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series. [PDF]

Commun Med (Lond)
Pillai NR, Liu N, Li X, Li X, Ahrens-Nicklas R, Adang L, Eisengart JB, Bronken G, Gupta A, Lund TC, Whitley CB, Elsea SH, Orchard PJ.   +12 more
europepmc   +1 more source

Retinal Function Deficits in American Staffordshire Terriers with a Late-Onset Neurodegenerative Disease Associated with an <i>ARSG</i> Variant. [PDF]

Vet Sci
Kick GR, Marzano SL, Ota-Kuroki J, Bullock G, Katz ML.   +4 more
europepmc   +1 more source

Gene Expression Analysis by Arylsulfatase Assays in the Green Alga Chlamydomonas reinhardtii

, 2018
Ian K. Blaby, Crysten E. Blaby‐Haas
openalex   +2 more sources

Arylsulfatase I is a novel lysosomal chondroitin sulfatase regulating endochondral ossification [PDF]

Rafaela Grecco-Machado, Satomi Nadanaka, Yuko Naito‐Matsui, Maria Iavazzo, Devin S Brown, Marziyeh Hassanzadeh, Tuanjie Chang, Elena Polishchuk, Ingrid J. Pickering, Graham N. George, Mark J. Hackett, Nicola Volpi, Carmine Settembre, Hiroshi Kitagawa, B. Frank Eames   +14 more
openalex   +1 more source

A Campylobacter jejuni sensor phosphatase-driven two-component system integrates metabolic phosphodonors as cues in signal transduction. [PDF]

Proc Natl Acad Sci U S A
Ruiz N, Hendrixson DR.
europepmc   +1 more source

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review. [PDF]

Mol Genet Metab Rep
La Rosa A, Pepe A, Tappino B, Corsolini F, Chiaro A, Madeo A.   +5 more
europepmc   +1 more source

Montmorillonite-based essential oil carrier and its effects on non-target species: an environmental perspective on its risk assessment. [PDF]

Front Toxicol
Machado S, Ganilho C, Andreani T, Sousa RMOF, Ribeiro A, Pereira R.   +5 more
europepmc   +1 more source

Different Land Use Systems in the Brazilian Cerrado and Their Effects on Soil Bacterial Communities. [PDF]

Microorganisms
Reis JBAD, Oliveira TMR, Sartori da Silva MRS, Lopes FAC, de Paula AM, Pontes NC, Vale HMMD.   +6 more
europepmc   +1 more source