Results 61 to 70 of about 29,707,281 (129)

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice

JCI Insight
The cellular etiology of seizures in CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of tripeptidyl peptidase 1 (TPP1), remains elusive.
Keigo Takahashi, Nicholas R. Rensing, Elizabeth M. Eultgen, Letitia L. Williams, Sophie H. Wang, Hemanth R. Nelvagal, Steven Q. Le, Marie S. Roberts, Balraj Doray, Edward B. Han, Patricia I. Dickson, Michael Wong, Mark S. Sands, Jonathan D. Cooper   +13 more
doaj   +1 more source

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

Frontiers in Genetics
A class of progressive, autosomal recessive neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs) are brought on by lysosomal protein or enzyme dysfunction.
Anna Bryzik, Dawid Larysz, Patrycja Larysz, Julia Izabela Karpierz, Justyna Paprocka   +4 more
doaj   +1 more source

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients

Scientific Reports
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rapidly progressive neurodegenerative disorder leading to premature mortality. Ambulatory CLN2 patients typically receive standard of care treatment through biweekly intracerebroventricular (ICV) enzyme ...
Rahul Soangra, Marybeth Grant-Beuttler, Harriet Chang, Raymond Y. Wang   +3 more
doaj   +1 more source

Левкодистрофии и левкоенцефалопатии в детската възраст – актуална класификация, диагностициране и лечение

Българска неврология, 2020
Левкодистрофиите и левкоенцефалопатиите са редки генетични прогресиращи заболявания на нервната система с начало в детската възраст с нарушен миелинов синтез в централната нервна система (ЦНС), по-рядко и в периферните нерви. Актуалната им класификация,
Veneta Bojinova, I. Milanov, A. Todorova, T. Todorov, N. Topalov   +4 more
doaj  

Lysosomal protein thermal stability does not correlate with cellular half-life: global observations and a case study of tripeptidyl-peptidase 1. [PDF]

Biochem J, 2020
Collier AM, Nemtsova Y, Kuber N, Banach-Petrosky W, Modak A, Sleat DE, Nanda V, Lobel P.   +7 more
europepmc   +1 more source

利用Rhizopus oryzae基因大量表現系統生產Lipase及Tripeptidyl Peptidase酵素

, 2014
Rhizopus oryzae can secrete large amount of various enzymes extracellularly and will be a good host for the production of heterologous proteins. An efficient method for the preparation of Rhizopus oryzae protoplasts was established by using three lytic ...
許文輝
core  

Strukturbestimmung der humanen Tripeptidyl Peptidase II über einen Hybrid-Ansatz

, 2018
Tripeptidyl peptidase II (TPPII) is a high molecular mass (~5 MDa) serine protease, which is thought to act downstream of the 26S proteasome, cleaving peptides released by the latter.
Schönegge, Anne-Marie
core  

Tripeptidyl-Peptidase II [Elektronisk resurs] : Structure, Function and Gene Regulation

, 2006
The protein degradation process is of vital importance for the cell to maintain cellular functions. An important enzyme in this process is the multimeric tripeptidyl-peptidase II (TPP II).
Widersten, Mikael, Lindås, Ann-Christin,, Tomkinson, Birgitta, Morgenstern, Ralf,   +3 more
core   +2 more sources

Tripeptidyl-Peptidase II : Structure, Function and Gene Regulation

, 2006
The protein degradation process is of vital importance for the cell to maintain cellular functions. An important enzyme in this process is the multimeric tripeptidyl-peptidase II (TPP II).
Lindås, Ann-Christin
core   +1 more source

Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]

Mol Ther Methods Clin Dev
Banach-Petrosky W, Larrimore KE, Sleat EH, Bazer A, Samuels B, Tan Y, Melton AC, Ichida JK, Logan TP, Lobel P, Sleat DE.   +10 more
europepmc   +1 more source