Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study (2007)
Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, ...
Abstract Background Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE ,...
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin (2005)
Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, Mommaas, Mieke, Boissy, Raymond E, Gahl, William A, ...
Abstract Background Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis characterized by oculocutaneous albinism and prolonged bleeding. These clinical findings...
Recent advances in the treatment of cystinosis (1995)
Schneider, Jerry A., Clark, K. F., Greene, A. A., Reisch, J. S., Markello, T. C., Gahl, William A., ...
Cysteamine bitartrate capsules (Cystagon) have been approved by the US Food and Drug Administration for use in patients with nephropathic cystinosis. Plasma cysteamine concentrations were virtually...
Reed, George F., Schulman, Joseph D., Gahl, William A., Thoene, Jess G., Schneider, Jerry A.
The predicted reciprocal creatinine at age 10 years (PRC 10 ), a parameter of renal function based upon the linear relationship between reciprocal serum creatinine and age, incorporates age, serum...
AP-3 Mediates Tyrosinase but Not TRP-1 Trafficking in Human Melanocytes
Huizing, Marjan, Sarangarajan, Rangaprasad, Strovel, Erin, Zhao, Yang, Gahl, William A., Boissy, Raymond E.
Patients with Hermansky-Pudlak syndrome type 2 (HPS-2) have mutations in the β3A subunit of adaptor complex-3 (AP-3) and functional deficiency of this complex. AP-3 serves as a coat protein in the...
Touchman, Jeffrey W., Anikster, Yair, Dietrich, Nicole L., Maduro, Valerie V. Braden, McDowell, Geraldine, Shotelersuk, Vorasuk, ...
Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes. Recently, the causative gene (CTNS) was identified and presumed to encode an...
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
Chintala, Sreenivasulu, Li, Wei, Lamoreux, M. Lynn, Ito, Shosuke, Wakamatsu, Kazumasa, Sviderskaya, Elena V., ...
In mammals, >100 genes regulate pigmentation by means of a wide variety of developmental, cellular, and enzymatic mechanisms. Nevertheless, genes that directly regulate pheomelanin production have...
Phornphutkul, Chanika, Anikster, Yair, Huizing, Marjan, Braun, Paula, Brodie, Chaya, Chou, Janice Y., ...
Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter...
Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition
Leroy, Jules G., Seppala, Raili, Huizing, Marjan, Dacremont, George, De Simpel, Helena, Van Coster, Rudy N., ...
“French type” sialuria, a presumably dominant disorder that, until now, had been documented in only five patients, manifests with mildly coarse facies, slight motor delay, and urinary excretion...
Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction,...
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, Mommaas, Mieke, Boissy, Raymond E, Gahl, William A, ...
Huizing, Marjan, Anikster, Yair, Fitzpatrick, Diana L., Jeong, Anna B., D’Souza, Maria, Rausche, Melanie, ...
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations...
AP-3 Mediates Tyrosinase but Not TRP-1 Trafficking in Human Melanocytes
Huizing, Marjan, Sarangarajan, Rangaprasad, Strovel, Erin, Zhao, Yang, Gahl, William A., Boissy, Raymond E.
Patients with Hermansky-Pudlak syndrome type 2 (HPS-2) have mutations in the β3A subunit of adaptor complex-3 (AP-3) and functional deficiency of this complex. AP-3 serves as a coat protein in the...
Touchman, Jeffrey W., Anikster, Yair, Dietrich, Nicole L., Maduro, Valerie V. Braden, McDowell, Geraldine, Shotelersuk, Vorasuk, ...
Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes. Recently, the causative gene (CTNS) was identified and presumed to encode an...
Anikster, Yair, Huizing, Marjan, Anderson, Paul D., Fitzpatrick, Diana L., Klar, Aharon, Gross-Kieselstein, Eva, ...
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of...
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
Chintala, Sreenivasulu, Li, Wei, Lamoreux, M. Lynn, Ito, Shosuke, Wakamatsu, Kazumasa, Sviderskaya, Elena V., ...
In mammals, >100 genes regulate pigmentation by means of a wide variety of developmental, cellular, and enzymatic mechanisms. Nevertheless, genes that directly regulate pheomelanin production have...
Phornphutkul, Chanika, Anikster, Yair, Huizing, Marjan, Braun, Paula, Brodie, Chaya, Chou, Janice Y., ...
Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter...
Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition
Leroy, Jules G., Seppala, Raili, Huizing, Marjan, Dacremont, George, De Simpel, Helena, Van Coster, Rudy N., ...
“French type” sialuria, a presumably dominant disorder that, until now, had been documented in only five patients, manifests with mildly coarse facies, slight motor delay, and urinary excretion...
Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction,...
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, Mommaas, Mieke, Boissy, Raymond E, Gahl, William A, ...
Huizing, Marjan, Anikster, Yair, Fitzpatrick, Diana L., Jeong, Anna B., D’Souza, Maria, Rausche, Melanie, ...
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations...
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, ...
Boissy, Raymond E., Richmond, Bonnie, Huizing, Marjan, Helip-Wooley, Amanda, Zhao, Yang, Koshoffer, Amy, ...
Hermansky-Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subtype of HPS with minimal cutaneous and ocular depigmentation. The HPS-3 gene encodes a novel protein of unknown function with a...
Galeano, Belinda, Klootwijk, Riko, Manoli, Irini, Sun, MaoSen, Ciccone, Carla, Darvish, Daniel, ...
Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho–N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body...
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules
Chintala, Sreenivasulu, Tan, Jian, Gautam, Rashi, Rusiniak, Michael E., Guo, Xiaoli, Li, Wei, ...
Platelet dense granules are lysosome-related organelles which contain high concentrations of several biologically important low-molecular-weight molecules. These include calcium, serotonin, adenine...