ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.

Hearn, Tom

Hearn, Tom.

Affiliation

Hearn T; Institute of Life Science, Swansea University Medical School, Singleton Park, Swansea, SA2 8PP, UK. tom.hearn@outlook.com.

J Mol Med (Berl) ; 97(1): 1-17, 2019 01.

Article in En | MEDLINE | ID: mdl-30421101

Subject(s)

Alstrom Syndrome/metabolism; Cell Cycle Proteins/metabolism; Alstrom Syndrome/genetics; Alstrom Syndrome/pathology; Amino Acid Sequence; Animals; Cell Cycle Proteins/analysis; Cell Cycle Proteins/genetics; Gene Expression Regulation; Humans; Protein Interaction Maps; Protein Isoforms/analysis; Protein Isoforms/genetics; Protein Isoforms/metabolism

Key words

ALMS motif; Actinin; Bardet-Biedl syndrome; C-Nap1; C10orf90; CART complex; CEP250; CEP295; Centriole; Centrosome; Cilia; Ciliopathy; Diabetes; Endosomal recycling; Fibrosis; GLUT4; Insulin resistance; KIAA1731; Mitogenic cardiomyopathy; Notch; Obesity; Pericentrin; RFX; Rootlet

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Cycle Proteins / Alstrom Syndrome Limits: Animals / Humans Language: En Journal: J Mol Med (Berl) Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Document type: Article Country of publication: Germany

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