Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE ; volume:22 ; number:1 ; day:13 ; month:5 ; year:2024 ; pages:1-19 ; date:12.2024
Journal of translational medicine ; 22, Heft 1 (13.5.2024), 1-19, 12.2024

Creator: Du, Jixiang
Liu, Fuchen
Liu, Xihan
Zhao, Dandan
Wang, Dongdong
Sun, Hongsheng
Yan, Chuanzhu
Zhao, Yuying

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12967-024-05275-8

URN: urn:nbn:de:101:1-2407222106269.086839200131

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:45 AM CEST

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Du, Jixiang
Liu, Fuchen
Liu, Xihan
Zhao, Dandan
Wang, Dongdong
Sun, Hongsheng
Yan, Chuanzhu
Zhao, Yuying
SpringerLink (Online service)

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Lysosomal dysfunction and microglial hyperactivation in models of progranulin deficiency

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Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

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Lysosomal dysfunction and microglial hyperactivation in models of progranulin deficiency

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Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

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Other Objects (12)

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Hepatosteatosis from Lysosomal Acid Lipase Deficiency

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology

Mitochondrial translation deficiency impairs NAD + ‐mediated lysosomal acidification

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

Charakterisierung der Phosphorylase- und der Phosphorylase-b-Kinase-Isoenzyme

Lysosomal dysfunction and microglial hyperactivation in models of progranulin deficiency

CLN6 deficiency causes selective changes in the lysosomal protein composition

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Hepatosteatosis from Lysosomal Acid Lipase Deficiency

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology

Mitochondrial translation deficiency impairs NAD + ‐mediated lysosomal acidification

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

Charakterisierung der Phosphorylase- und der Phosphorylase-b-Kinase-Isoenzyme

Lysosomal dysfunction and microglial hyperactivation in models of progranulin deficiency

CLN6 deficiency causes selective changes in the lysosomal protein composition

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Hepatosteatosis from Lysosomal Acid Lipase Deficiency

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology

Mitochondrial translation deficiency impairs NAD + ‐mediated lysosomal acidification

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

Charakterisierung der Phosphorylase- und der Phosphorylase-b-Kinase-Isoenzyme

Lysosomal dysfunction and microglial hyperactivation in models of progranulin deficiency

CLN6 deficiency causes selective changes in the lysosomal protein composition

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