Results 41 to 50 of about 620 (115)

Untersuchungen zur Prozessierung, Qualitätskontrolle und Assoziation von unterschiedlichen humanen Arylsulfatase A Proteinen innerhalb des endoplasmatischen Reticulums, sowie deren Degradation im Falle von Missfaltungen [PDF]

In der vorliegenden Arbeit wurden Untersuchungen an 9 hASA-Proteinen durchgeführt, um detaillierte Informationen über deren Prozessierung, Qualitätskontrolle und Assoziation zu Oligomeren innerhalb des endoplasmatischen Reticulums zu erhalten.
Poeppel, Peter
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Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis [PDF]

, 2013
K. Harzer, K. Sandhoff
core   +1 more source

Ontology-based methods for disease similarity estimation and drug repositioning [PDF]

Title from PDF of title page, viewed on October 2, 2012Dissertation advisor: Deendayal DinakarpandianVitaIncludes bibliographic references (p. 174-181)Thesis (Ph.D.)--School of Computing and Engineering and Dept. of Mathematics and Statistics. University
Mathur, Sachin
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Saposin B und D: Heterologe Expression in Pichia pastoris und biophysikalische Charakterisierung [PDF]

Die vier Saposine (Saps) A-D sind kleine, enzymatisch inaktive Glykoproteine, die in Lysosomen lokalisiert sind. Trotz ihrer hohen Sequenzhomologie zeigen sie als membranaktive, wasserlösliche Lipidbindungs- und Transferproteine unterschiedliche ...
Remmel, Natascha
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Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review. [PDF]

Children (Basel), 2023
Schittkowski MP, Naxer S, Elabbasy M, Herholz L, Breitling V, Finglas A, Gärtner J, Schlotawa L.   +7 more
europepmc   +1 more source

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

Sulfation pathways in the maintenance of functional beta-cell mass and implications for diabetes. [PDF]

Essays Biochem
Mueller JW, Thomas P, Dalgaard LT, da Silva Xavier G.   +3 more
europepmc   +1 more source

Sulfatide Binds to Influenza B Virus and Enhances Viral Replication. [PDF]

Viruses
Kurebayashi Y, Wakabayashi Y, Takahashi T, Sakakibara K, Takahashi S, Minami A, Suzuki T, Takeuchi H.   +7 more
europepmc   +1 more source

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. [PDF]

BMC Pediatr, 2023
Sheth J, Shah S, Datar C, Bhatt K, Raval P, Nair A, Jain D, Shah J, Sheth F, Sheth H.   +9 more
europepmc   +1 more source

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families. [PDF]

J Child Neurol
Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA.   +12 more
europepmc   +1 more source