Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.

Sarkar, Chinmoy; Sadhukhan, Tamal; Bagh, Maria B; Appu, Abhilash P; Chandra, Goutam; Mondal, Avisek; Saha, Arjun; Mukherjee, Anil B

Sarkar, Chinmoy; Sadhukhan, Tamal; Bagh, Maria B; Appu, Abhilash P; Chandra, Goutam; Mondal, Avisek; Saha, Arjun; Mukherjee, Anil B.

Afiliación

Sarkar C; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Sadhukhan T; Department of Anesthesiology, University of Maryland School of Medicine, 655 West Baltimore Street, MSTF # 6-00, Baltimore, MD, USA.
Bagh MB; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Appu AP; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Chandra G; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Mondal A; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Saha A; Center for Development and Aging Research, Inter University Center for Biomedical Research & Super Specialty Hospital, Mahatma Gandhi University Campus at Thalappady, Kottayam, Kerala, India.
Mukherjee AB; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

J Inherit Metab Dis ; 43(5): 1082-1101, 2020 09.

Article en En | MEDLINE | ID: mdl-32279353

Asunto(s)

Proteínas Adaptadoras Transductoras de Señales/metabolismo; Lisosomas/enzimología; Lipofuscinosis Ceroideas Neuronales/genética; Tioléster Hidrolasas/metabolismo; Proteínas de Unión al GTP rab/metabolismo; Animales; Autofagia; Células Cultivadas; Modelos Animales de Enfermedad; Ratones; Ratones Endogámicos C57BL; Ratones Noqueados; Mutación; Lipofuscinosis Ceroideas Neuronales/patología; Tioléster Hidrolasas/genética; Proteínas de Unión a GTP rab7

Palabras clave

S-palmitoylation; infantile neuronal ceroid lipofuscinosis; lysosomal storage disease; neurodegeneration; palmitoyl-protein thioesterases-1

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Proteínas de Unión al GTP rab / Proteínas Adaptadoras Transductoras de Señales / Lisosomas / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Animals Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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