Results 71 to 80 of about 2,160,111 (122)

Peroxisomal dysfunction interferes with odontogenesis and leads to developmentally delayed teeth and defects in distinct dental cells in Pex11b-deficient mice.

PLoS ONE
Human peroxisomal biogenesis disorders of the Zellweger syndrome spectrum affect skeletal development and induce tooth malformations. Whereas several peroxisomal knockout mouse studies elucidated the pathogenesis of skeletal defects, little information ...
Claudia Colasante, Julia Jednakowski, Klaus-Peter Valerius, Xiaoling Li, Eveline Baumgart-Vogt   +4 more
doaj   +1 more source

Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease

Life Science Alliance
Peroxisome-mediated cholesterol trafficking is essential for the ciliary localization of the polycystin complex to prevent the occurrence of polycystic kidney.
Takeshi Itabashi, Kosuke Hosoba, Tomoka Morita, Sotai Kimura, Kenji Yamaoka, Moe Hirosawa, Daigo Kobayashi, Hiroko Kishi, Kodai Kume, Hiroshi Itoh, Hideshi Kawakami, Kouichi Hashimoto, Takashi Yamamoto, Tatsuo Miyamoto   +13 more
doaj   +1 more source

Autism spectrum disorders [PDF]

, 2011
The earlier that children with an Autism Spectrum Disorder (ASD) receive referral, diagnosis and intervention, the better the long-term results are for those children and their families (Barbaro & Dissanyake, 2009; Wiggins et al., 2006; Mandell et al.
Centre for Community Child Health
core  

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease.
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group   +23 more
doaj   +1 more source

The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder. [PDF]

EMBO Rep, 2021
Nuebel E, Morgan JT, Fogarty S, Winter JM, Lettlova S, Berg JA, Chen YC, Kidwell CU, Maschek JA, Clowers KJ, Argyriou C, Chen L, Wittig I, Cox JE, Roh-Johnson M, Braverman N, Bonkowsky J, Gygi SP, Rutter J.   +18 more
europepmc   +1 more source

Autism Spectrum Disorder

Autism Spectrum Disorder of the Pittsburgh Pocket Psychiatry Series highlights current key topics for this developmental neurobiological disorder: early identification and diagnosis; medical, psychiatric, behavioral, social, educational and language ...
McGonigle, John J., Lubetsky, Martin J., Handen, Benjamin L.   +2 more
core  

Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders

Frontiers in Molecular Neuroscience
Zellweger spectrum disorders (ZSDs) are rare autosomal recessive conditions belonging to the larger group of peroxisome biogenesis disorders. The most prevalent form of ZSD is caused by mutations in the PEX1 gene, which encodes an AAA ATPase protein ...
Ursula Heins-Marroquin, Zlatan Hodzic, Beatriz Soares Carneiro da Silva, Agnes Hendriks, Floriane Gavotto, Marc O. Warmoes, Lisa Schlicker, Samy Omri, Christian Jäger, Enrico Glaab, Nancy E. Braverman, Nancy E. Braverman, Maria Lorena Cordero-Maldonado, Carole L. Linster   +13 more
doaj   +1 more source

Autism Spectrum Disorder What Every Parent Needs to Know

Front Cover -- Title Page -- Copyright -- From the Editors -- Contents -- Please Note -- Acknowledgments -- Chapter 1. What Is Autism Spectrum Disorder? -- Chapter 2. What Causes Autism Spectrum Disorder? -- Chapter 3.
Rosenblatt, MD, FAAP, Alan I., Carbone, MD, FAAP, Paul S., Pediatrics, American Academy of.   +2 more
core  

Trogen, Kantonsbibliothek Appenzell Ausserrhoden, Fa Zellweger 90/A : 01.1 : Chronicle of the Zellweger family, vol. 1

, 1891
Album with depictions of members of the Zellweger family of textile merchants from Trogen, with biographical texts on the male representatives of the family.
Zellweger, Victor Eugen
core   +1 more source

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

, 2017
Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual disability revealed a homozygous variant in PEX3 that ...
Ane-Marte Øye, Alma Sikiric, Waterham, Hans R., Amundsen, Silja Svanstrøm, Sikiric, Alma, Selmer, Kaja, Silja Svanstrøm Amundsen, Fjær, Roar, Ferdinandusse, Sacha, Øye, Ane-Marte, Kathrine Bjørgo, Mørk, Hanne Håberg, Kaja Selmer, Kulseth, Mari Ann, Roar Fjær, Bjørgo, Kathrine, Falkenberg, Kim D., Mari Ann Kulseth, Hanne Håberg Mørk, Sacha Ferdinandusse, Hans R. Waterham, Kim D. Falkenberg   +21 more
core   +1 more source