Results 181 to 186 of about 4,795 (186)

Structural and functional consequences of a disease mutation in the telomere protein TPP1

Proceedings of the National Academy of Sciences of the United States of America, 2016
Jayakrishnan Nandakumar, Kamlesh Bisht, Nandakumar Jayakrishnan   +2 more
exaly  

A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport

Cell Reports, 2019
Thomas Schwarz, Himanish Basu, Xuan Huang   +2 more
exaly  

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Journal of the Neurological Sciences, 2015
Marco Tartaglia, Enrico Bertini, Enza Maria Valente   +2 more
exaly  

Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation

Seizure: the Journal of the British Epilepsy Association, 2019
Yong-Hong Yi, Xiaorong Liu, Tao Su
exaly  

Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening

Molecular Genetics and Metabolism, 2018
Jun Tohyama, Haruo Shintaku, Takashi Miyajima   +2 more
exaly  

METHODS AND COMPOSITIONS FOR BASE EDITING OF TPP1 IN THE TREATMENT OF BATTEN DISEASE

LIU DAVID R, RANDOLPH PEYTON BARKSDALE, WEIMER JILL, NEWBY GREGORY   +3 more
openaire   +1 more source