Results 71 to 80 of about 1,135,071 (192)

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

A study of mitochondrial biogenesis in the rodent nervous system [PDF]

, 2015
This thesis investigates the process of mitochondrial biogenesis in the rodent CNS in the context of neuroinflammatory and neurodegenerative disease. There is mounting evidence of mitochondrial damage in neuroinflammation but very little is known about ...
Desai, R
core  

Clinical approach to inherited peroxisomal disorders: A series of 27 patients.

, 1998
To illustrate the clinical and biochemical heterogeneity of peroxisomal disorders, we report our experience with 27 patients seen personally between 1982 and 1997.
Espeel, M, VERHOEVEN, NM, WANDERS, RJA, Verhoeven, N M, ROLLAND, MO, Rolland, M. O., Poll-The, B T, Levade, T., Verhoeven, N. M., POLL-THE, BT, JAKOBS, C, Roels, F., MARTINEZ, M, Espeel, M., Poll-The, B. T., Roels, Frank, Rolland, M O, SAUDUBRAY, JM, Baumgartner, Matthias R; https://orcid.org/, Wanders, R J A, Rabier, D., Saudubray, J M, BAUMGARTNER, MR, Espeel, Marc, Saudubray, J. M., Jakobs, C., Roels, F, LEVADE, T, RABIER, D, Baumgartner, M. R., Martinez, M., Wanders, R. J.   +31 more
core   +1 more source

Pex3p‐dependent peroxisomal biogenesis initiates in the endoplasmic reticulum of human fibroblasts

, 2009
The mechanisms of peroxisomal biogenesis remain incompletely understood, specially regarding the role of the endoplasmic reticulum (ER) in human cells, where genetic disorders of peroxisome biogenesis lead to Zellweger syndrome (ZS).
Regina E. Moreno, Alejandro Venegas, Cristian A. Arredondo, Andrés A. Toro, Arredondo, Cristian A., Santos, Manuel J., Hugo G. Cárdenas, Claudia A. Araya, Venegas, Alejandro, Cecilia S. Koenig, Cordova, Gonzalo J., Gonzalez, Alfonso, Manuel J. Santos, Cancino, Jorge, Jorge Cancino, Araya, Claudia A., Gonzalo J. Córdova, Toro, Andres A., Alfonso Gonzalez, Cardenas, Hugo G., Moreno, Regina E., Koenig, Cecilia S.   +21 more
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Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Sorting and function of peroxisomal membrane proteins [PDF]

, 2000
Peroxisomes are subcellular organelles and are present in virtually all eukaryotic cells. Characteristic features of these organelles are their inducibility and their functional versatility.
Faber, Klaas Nico,, Ida J. Van Der Klei, Wim Harder, Klei, Ida J. van der,, Baerends, RJS, Veenhuis, M, Harder, Wim,, Faber, KN, Kiel, JAKW, Harder, W, Klaas Nico Faber, Veenhuis, Marten,, van der Klei, IJ; id_orcid, Baerends, Richard J.S.,, Kiel, Jan A.K.W.,, Richard J. S. Baerends, Marten Veenhuis, van der Klei, IJ, Jan A. K. W. Kiel   +18 more
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Prenatal and perinatal diagnosis of peroxisomal disorders

, 1989
Peroxisomes play an essential role in human cellular metabolism. Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of ...
Schutgens, R. B., R. J. A. Wanders, H. van den Bosch, Schrakamp, G., Heymans, H. S., J. M. Tager, H. S. A. Heymans, Tager, J. M., R. B. H. Schutgens, Wanders, R. J., van den Bosch, H., G. Schrakamp   +11 more
core   +1 more source

Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder

, 2005
Peroxisomal biogenesis disorders include Zellweger syndrome and milder phenotypes, such as neonatal adrenoleukodystrophy (NALD). Our previous study of a NALD patient with a marked deterioration by a fever revealed a mutation (Ile326Thr) within a SH3 ...
Tochio, Hidehito, Yamamoto, Yutaka, Wanders, Ronald J. A., Kondo, Naomi, Shimozawa, Nobuyuki, Nagase, Tomoko, Kato, Zenichiro, Kuwata, Kazuo, Hashimoto, Kazuyuki, Shirakawa, Masahiro, Omoya, Kentaro, Ohnishi, Hidenori, Li, Ailian, Suzuki, Yasuyuki, Matsukuma, Eiji   +14 more
core   +1 more source

Peroxisomal ABC transporters: functions and mechanism [PDF]

, 2015
Peroxisomes are arguably the most biochemically versatile of all eukaryotic organelles. Their metabolic functions vary between different organisms, between different tissue types of the same organism, and even between different developmental stages or in
Waterham, H. R., Carrier, DJ, Waterham, Hans R., Theodoulou, F. L., Carrier, D. J., Baker, Alison, Schaedler, T, Waterham, HR, van Roermund, Carlo W., Van Roermund, C. W., Baker, A, Theodoulou, Frederica L., Schaedler, Theresia, Carrier, David J., Theodoulou, FL, van Roermund, CW, Schaedler, T. A., Baker, A.   +17 more
core   +1 more source

Peroxisomal biogenesis - the participation of dynamin-related proteins and the role fo the endoplasmatic reticulum

, 2016
This present work deals with the peroxisomal biogenesis and should help to understand it. The work focuses on the participation of the dynamin-like protein Vps1p in the process of the peroxisomal biogenesis in S. cerevisiae. It is already published
Frick, Jessica
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