Results 221 to 230 of about 792,149 (335)

Substrate specificity of amine oxidases [PDF]

Biochemical Journal, 1945
H. Blaschko, Ruth Duthie
openaire   +3 more sources

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Broad Substrate Specificity and High Catalytic Activity of <i>Sphingomonadaceae</i> PhoK-Type Phosphatases Implicated in Flame-Retardant Degradation. [PDF]

ACS Omega
Freeman L, Davis A, Gossen H, Estes J, Bigley AN.   +4 more
europepmc   +1 more source

alpha-N-Benzoylarginine-2-naphthylamide Hydrolase (Cathepsin B1?) from Rat Skin. III. Substrate Specificity, Modifier Characteristics, and Transfomation of the Enzyme at Acidic pH. [PDF]

, 1976
M. Järvinen, Kjell Tjessem, A.D. Dale, Thor Gramstad, S. Tagar, S. Norgård, H. Kjøsen, S. Liaaen‐Jensen   +7 more
openalex   +1 more source

The substrate specificity of pepsin C [PDF]

Biochemical Journal, 1968
F Falla, A. P. Ryle, J Leclerc
openaire   +3 more sources

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Structural basis for the substrate specificity of Helix pomatia AMP deaminase and a chimeric ADGF adenosine deaminase. [PDF]

J Biol Chem
Kaur G, Horton JR, Tzertzinis G, Zhou J, Schildkraut I, Cheng X.   +5 more
europepmc   +1 more source

Threonine deaminase from Salmonella typhimurium. Substrate-specific patterns of inhibition in an activator site-deficient form of the enzyme.

, 1979
R. O. Burns, John G. Hofler, Geraldine H. Luginbuhl   +2 more
openalex   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Serum soluble mediator signatures of lupus nephritis: histological features and response to treatment

Arthritis Care &Research, Accepted Article.
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histological features and treatment response.
Andrea Fava, Catriona A. Wagner, Carla J. Guthridge, Susan Macwana, Wade DeJager, Melissa E. Munroe, Peter Izmirly, H. Michael Belmont, Betty Diamond, Anne Davidson, Paul J. Utz, Michael H Weisman, Philip M Carlucci, Maria Dall'Era, Kenneth Kalunian, Chaim Putterman, Jennifer Anolik, Jennifer L Barnas, David Wofsy, Diane Kamen, Richard A Furie, Deepak A Rao, the Accelerating Medicines Partnership (AMP) RA/SLE Network, Michelle Petri, Joel M. Guthridge, Jill Buyon, Judith A. James   +26 more
wiley   +1 more source