Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.

Kleynerman, Annie; Rybova, Jitka; Faber, Mary L; McKillop, William M; Levade, Thierry; Medin, Jeffrey A

Kleynerman, Annie; Rybova, Jitka; Faber, Mary L; McKillop, William M; Levade, Thierry; Medin, Jeffrey A.

Afiliação

Kleynerman A; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Rybova J; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Faber ML; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
McKillop WM; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Levade T; Laboratoire de Biochimie Métabolique, CHU Toulouse, and INSERM U1037, Centre de Recherches en Cancérologie de Toulouse, Université Paul Sabatier, 31062 Toulouse, France.
Medin JA; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Biomolecules ; 13(2)2023 02 01.

Article em En | MEDLINE | ID: mdl-36830643

Assuntos

Lipogranulomatose de Farber; Atrofia Muscular Espinal; Epilepsias Mioclônicas Progressivas; Camundongos; Animais; Humanos; Lipogranulomatose de Farber/genética; Ceramidas; Epilepsias Mioclônicas Progressivas/genética; Atrofia Muscular Espinal/genética; Mutação

Palavras-chave

Farber disease; SMA-PME; acid ceramidase; ceramide; lipogranulomatosis; lysosomal storage disorder

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Epilepsias Mioclônicas Progressivas / Lipogranulomatose de Farber Limite: Animals / Humans Idioma: En Revista: Biomolecules Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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