Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.

Vardi, Ayelet; Pri-Or, Amir; Wigoda, Noa; Grishchuk, Yulia; Futerman, Anthony H

Vardi, Ayelet; Pri-Or, Amir; Wigoda, Noa; Grishchuk, Yulia; Futerman, Anthony H.

Afiliação

Vardi A; Department of Biomolecular Sciences, Weizmann Institute of Science, 76100, Rehovot, Israel.
Pri-Or A; The Nancy and Stephen Grand Israel National Center for Personalized Medicine, Weizmann Institute of Science, 76100, Rehovot, Israel.
Wigoda N; The Life Sciences Core Facilities, Weizmann Institute of Science, 76100, Rehovot, Israel.
Grishchuk Y; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA, 02114, USA.
Futerman AH; Department of Biomolecular Sciences, Weizmann Institute of Science, 76100, Rehovot, Israel. tony.futerman@weizmann.ac.il.

Orphanet J Rare Dis ; 16(1): 39, 2021 01 21.

Article em En | MEDLINE | ID: mdl-33478506

Assuntos

Mucolipidoses; Canais de Potencial de Receptor Transitório; Animais; Encéfalo/metabolismo; Humanos; Lisossomos/metabolismo; Camundongos; Mucolipidoses/genética; Proteômica; Canais de Potencial de Receptor Transitório/genética; Canais de Potencial de Receptor Transitório/metabolismo

Palavras-chave

Autophagy; Brain; Calbindin; Lysosome; Neuroinflammation; Neuropathology; TRPML1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Potencial de Receptor Transitório / Mucolipidoses Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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