Results 11 to 20 of about 58,222 (243)

Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder. [PDF]

J Radiol Case Rep, 2015
Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI.
Malatt C, Koning JL, Naheedy J.
europepmc   +2 more sources

CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

PLoS ONE, 2012
A major challenge for the treatment of many central nervous system (CNS) disorders is the lack of convenient and effective methods for delivering biological agents to the brain.
Pericles Calias, Mikhail Papisov, Jing Pan, Nancy Savioli, Vasily Belov, Yan Huang, Jason Lotterhand, Mary Alessandrini, Nan Liu, Alan J. Fischman, Jan Powell, Michael W. Heartlein   +11 more
openalex   +3 more sources

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell, 2021
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Low RLY, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +2 more sources

SNX8 enables lysosome reformation and reverses lysosomal storage disorder [PDF]

Nature Communications
Lysosomal Storage Disorders (LSDs), which share common phenotypes, including enlarged lysosomes and defective lysosomal storage, are caused by mutations in lysosome-related genes.
Xinran Li, Cong Xiang, Shilei Zhu, Jiansheng Guo, Chang Liu, Ailian Wang, Jin Cao, Yan Lu, Dante Neculai, Pinglong Xu, Xin-Hua Feng   +10 more
doaj   +2 more sources

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Acta Neuropathologica Communications, 2018
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic ...
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber   +8 more
doaj   +2 more sources

Lysosomal Storage Disorders and Malignancy [PDF]

Diseases, 2017
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population.
Pastores, GM, Hughes, DA
openaire   +6 more sources

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. [PDF]

Brain, 2017
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J, International Parkinson’s Disease Genomics Consortium (IPDGC), Heutink P, Shulman JM.   +8 more
europepmc   +2 more sources

Prevalence of Lysosomal Storage Disorders [PDF]

JAMA, 1999
Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of ...
Meikle, P., Hopwood, J., Clague, A., Carey, W.   +3 more
openaire   +4 more sources

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder. [PDF]

Pharmaceutics
Omer S, Nagy N, Pinke B, Mészáros L, Kazsoki A, Zelkó R.   +5 more
europepmc   +3 more sources

Lysosomal storage disorders [PDF]

British Journal of Haematology, 2005
SummaryAlthough the first description of a lysosomal storage disorder was that of Tay‐Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. The first demonstration by Hers in 1963 of a link between an enzyme deficiency and a storage disorder (Pompe's disease) paved the way for a series of seminal discoveries about the
Gregory M. Enns, Robert D. Steiner
  +5 more sources