An alternative cell cycle coordinates multiciliated cell differentiation.

Autor: Choksi SP; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA. semil.choksi@ucsf.edu., Byrnes LE; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Konjikusic MJ; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Tsai BWH; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Deleon R; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Lu Q; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Westlake CJ; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Reiter JF; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA. jeremy.reiter@ucsf.edu.; Chan Zuckerberg Biohub, San Francisco, CA, USA. jeremy.reiter@ucsf.edu.

Publikováno v: Nature [Nature] 2024 Jun; Vol. 630 (8015), pp. 214-221. Date of Electronic Publication: 2024 May 29.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Autor: Herzog, Andreas¹, Hartung, Ralf¹, Reuser, Arnold J. J.², Hermanns, Pia¹, Runz, Heiko³, Karabul, Nesrin¹, G�kce, Seyfullah¹, Pohlenz, Joachim¹, Kampmann, Christoph¹, Lampe, Christina¹, Beck, Michael¹, Mengel, Eugen¹

Publikováno v: Orphanet Journal of Rare Diseases. 2012, Vol. 7 Issue 1, p35-48. 14p. 1 Diagram, 5 Charts, 4 Graphs.

Frontiers in Lysosomal Storage Diseases (LSD) Treatments

Autor: Lunawati L. Bennett

This book provides a comprehensive collection of more than 50 inherited metabolic lysosomal disorders which aims to provide the most up to date literature sources oriented toward improving our understanding of rare diseases to meet the diverse needs